Robert J. Desnick - Publications

Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Genetics, Molecular Biology, Pathology

295 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Ortiz A, Kanters S, Hamed A, DasMahapatra P, Poggio E, Maski M, Aguiar M, Ponce E, Jansen JP, Ayers D, Goldgrub R, Desnick RJ. Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis. Clinical Kidney Journal. 14: 1136-1146. PMID 33841859 DOI: 10.1093/Ckj/Sfaa065  0.325
2020 Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, ... ... Desnick RJ, et al. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clinical Genetics. PMID 32901917 DOI: 10.1111/Cge.13848  0.323
2020 Yasuda M, Huston MW, Pagant S, Gan L, St Martin S, Sproul S, Richards D, Ballaron S, Hettini K, Ledeboer A, Falese L, Cao L, Lu Y, Holmes MC, Meyer K, ... Desnick RJ, et al. AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction. Molecular Therapy. Methods & Clinical Development. 18: 607-619. PMID 32775495 DOI: 10.1016/J.Omtm.2020.07.002  0.4
2020 Berger S, Stattmann M, Cicvaric A, Monje FJ, Coiro P, Hotka M, Ricken G, Hainfellner J, Greber-Platzer S, Yasuda M, Desnick RJ, Pollak DD. Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria. Acta Neuropathologica Communications. 8: 38. PMID 32197664 DOI: 10.1186/S40478-020-00910-Z  0.311
2019 Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, et al. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology (Baltimore, Md.). PMID 31512765 DOI: 10.1002/Hep.30936  0.31
2019 Parker CJ, Desnick RJ, Bissel MD, Bloomer JR, Singal A, Gouya L, Puy H, Anderson KE, Balwani M, Phillips JD. Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. Molecular Genetics and Metabolism. PMID 31395332 DOI: 10.1016/J.Ymgme.2019.07.017  0.339
2019 Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, ... ... Desnick RJ, et al. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31073229 DOI: 10.1038/S41436-019-0537-7  0.336
2019 Moghe A, Ramanujam VMS, Phillips JD, Desnick RJ, Anderson KE. Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. Molecular Genetics and Metabolism Reports. 19: 100457. PMID 30828546 DOI: 10.1016/J.Ymgmr.2019.100457  0.348
2019 Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. Journal of Inherited Metabolic Disease. 42: 186-194. PMID 30740734 DOI: 10.1002/Jimd.12040  0.368
2019 Yasuda M, Desnick RJ. Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. Molecular Genetics and Metabolism. PMID 30737139 DOI: 10.1016/J.Ymgme.2019.01.007  0.329
2019 Nowak A, Desnick RJ. Fabry disease: Incidence of pathogenic GLA mutations estimated by newborn screening studies Molecular Genetics and Metabolism. 126. DOI: 10.1016/J.Ymgme.2018.12.279  0.375
2019 Huston MW, Yasuda M, Pagant S, Martin SS, Cao L, Falese L, Meyer K, Desnick RJ, Wechsler T. Liver-targeted AAV gene therapy vectors produced by a clinical scale manufacturing process result in high, continuous therapeutic levels of enzyme activity and effective substrate reduction in mouse model of Fabry disease Molecular Genetics and Metabolism. 126. DOI: 10.1016/J.Ymgme.2018.12.187  0.351
2018 Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: Recent advances. Molecular Genetics and Metabolism. PMID 30685241 DOI: 10.1016/J.Ymgme.2018.12.008  0.382
2018 Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Molecular Genetics and Metabolism. PMID 30594473 DOI: 10.1016/J.Ymgme.2018.11.012  0.369
2018 Phillips J, Farrell C, Wang Y, Singal AK, Anderson K, Balwani M, Bissell M, Bonkovsky H, Seay T, Paw B, Desnick R, Bloomer J. Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria. Molecular Genetics and Metabolism. PMID 30391163 DOI: 10.1016/J.Ymgme.2018.10.005  0.345
2018 Ersözlü S, Desnick RJ, Huynh-Do U, Canaan-Kühl S, Barbey F, Genitsch V, Müller T, Cheetham M, Flammer A, Schaub S, Nowak A. Long-Term Outcomes of Kidney Transplantation in Fabry Disease. Transplantation. PMID 29688992 DOI: 10.1097/Tp.0000000000002252  0.308
2018 Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism. PMID 29530533 DOI: 10.1016/J.Ymgme.2018.02.014  0.376
2018 Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. Journal of Medical Genetics. PMID 29330335 DOI: 10.1136/Jmedgenet-2017-105080  0.375
2018 Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, ... ... Desnick RJ, et al. Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Science Translational Medicine. 10. PMID 29321258 DOI: 10.1126/Scitranslmed.Aai7795  0.309
2018 Huston MW, Yasuda M, Pagant S, Martin SS, Sproul S, DeKelver R, Holmes MC, Desnick RJ, Wechsler T. Liver-based expression of the human alpha-galactosidase A gene in a murine Fabry model results in continuous therapeutic levels of enzyme activity and effective substrate reduction Molecular Genetics and Metabolism. 123. DOI: 10.1016/J.Ymgme.2017.12.167  0.342
2018 Chen B, Pagant S, Desnick RJ. Precision medicine for Fabry disease: Benign and like-benign missense mutations Molecular Genetics and Metabolism. 123. DOI: 10.1016/J.Ymgme.2017.12.056  0.369
2017 Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ. Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients. Journal of Human Genetics. PMID 29263414 DOI: 10.1038/S10038-017-0375-X  0.356
2017 Maron MS, Xin W, Sims KB, Butler R, Haas TS, Rowin EJ, Desnick RJ, Maron BJ. Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. The American Journal of Medicine. PMID 28943383 DOI: 10.1016/J.Amjmed.2017.09.010  0.399
2017 Heo SH, Kang E, Kim YM, Go H, Kim KY, Jung JY, Kang M, Kim GH, Kim JM, Choi IH, Choi JH, Jung SC, Desnick RJ, Yoo HW, Lee BH. Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. Journal of Medical Genetics. PMID 28835480 DOI: 10.1136/Jmedgenet-2017-104704  0.304
2017 Adalsteinsdottir B, Palsson R, Desnick RJ, Gardarsdottir M, Teekakirikul P, Maron M, Appelbaum E, Neisius U, Maron BJ, Burke MA, Chen B, Pagant S, Madsen CV, Danielsen R, Arngrimsson R, et al. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes. Circulation. Cardiovascular Genetics. 10. PMID 28798024 DOI: 10.1161/Circgenetics.116.001639  0.355
2017 Frustaci A, Chimenti C, Doheny D, Desnick RJ. Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬. International Journal of Cardiology. PMID 28688718 DOI: 10.1016/J.Ijcard.2017.06.079  0.328
2017 Nowak A, Mechtler T, Kasper DC, Desnick RJ. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease. Molecular Genetics and Metabolism. PMID 28663131 DOI: 10.1016/J.Ymgme.2017.06.006  0.306
2017 Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. Jama Dermatology. PMID 28614581 DOI: 10.1001/Jamadermatol.2017.1557  0.3
2017 Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease. Molecular Genetics and Metabolism. 120: 27-33. PMID 28164782 DOI: 10.1016/J.Ymgme.2016.12.008  0.343
2017 Niu D, Hsu T, Hung S, Chang F, Yu W, Sung S, Hsu C, Desnick RJ. AB050. Later onset Fabry disease, cardiac damage progress in silence-experience with a highly prevalent mutation Annals of Translational Medicine. 5: 48. DOI: 10.21037/16636  0.337
2017 Huston MW, Yasuda M, Pagant S, Martin SS, Sproul S, Santiago Y, DeKelver R, Holmes MC, Desnick R, Wechsler T. Liver-based expression of the human alpha-galactosidase A gene (GLA) in a murine Fabry model results in continuous supra-physiological enzyme activity and effective substrate reduction Molecular Genetics and Metabolism. 120. DOI: 10.1016/J.Ymgme.2016.11.160  0.34
2017 Doheny DO, Srinivasan R, Desnick RJ. Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac, and stroke clinics Molecular Genetics and Metabolism. 120. DOI: 10.1016/J.Ymgme.2016.11.084  0.314
2017 Desnick RJ, Chen R, Srinivasan R, Doheny DO, Bishop D. The Fabry disease genotype-phenotype database (dbFGP): an international expert consortium Molecular Genetics and Metabolism. 120. DOI: 10.1016/J.Ymgme.2016.11.082  0.33
2016 Hsu TR, Hung SC, Chang FP, Yu WC, Sung SH, Hsu CL, Dzhagalov I, Yang CF, Chu TH, Lee HJ, Lu YH, Chang SK, Liao HC, Lin HY, Liao TC, ... ... Desnick RJ, et al. Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. Journal of the American College of Cardiology. 68: 2554-2563. PMID 27931613 DOI: 10.1016/J.Jacc.2016.09.943  0.33
2016 Nowak A, Mechtler TP, Desnick RJ, Kasper DC. Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. Molecular Genetics and Metabolism. PMID 27773586 DOI: 10.1016/J.Ymgme.2016.10.006  0.369
2016 Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, ... Desnick RJ, et al. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27657681 DOI: 10.1038/Gim.2016.122  0.376
2016 Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, Balwani M, Doheny D, Peter I, Chen R, Desnick RJ. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Human Mutation. PMID 27539938 DOI: 10.1002/Humu.23067  0.371
2016 Haghighi A, Nafissi S, Qurashi A, Tan Z, Shamshiri H, Nilipour Y, Haghighi A, Desnick RJ, Kornreich R. Genetics of GNE myopathy in the non-Jewish Persian population. European Journal of Human Genetics : Ejhg. 24: 243-51. PMID 25966635 DOI: 10.1038/Ejhg.2015.78  0.337
2015 Chan A, Liebow A, Yasuda M, Gan L, Racie T, Maier M, Kuchimanchi S, Foster D, Milstein S, Charisse K, Sehgal A, Manoharan M, Meyers R, Fitzgerald K, Simon A, ... Desnick RJ, et al. Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification. Molecular Therapy. Nucleic Acids. 4: e263. PMID 26528940 DOI: 10.1038/Mtna.2015.36  0.302
2015 Ashe KM, Budman E, Bangari DS, Siegel CS, Nietupski JB, Wang B, Desnick RJ, Scheule RK, Leonard JP, Cheng SH, Marshall J. Efficacy of enzyme and substrate reduction therapy with a novel antagonist of glucosylceramide synthase for Fabry disease. Molecular Medicine (Cambridge, Mass.). PMID 25938659 DOI: 10.2119/Molmed.2015.00088  0.335
2015 Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Journal of Medical Genetics. 52: 353-8. PMID 25795794 DOI: 10.1136/Jmedgenet-2014-102797  0.311
2015 Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). American Journal of Medical Genetics. Part A. 167: 1061-70. PMID 25728400 DOI: 10.1002/Ajmg.A.36973  0.346
2015 Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini MD, Naik H, Desnick RJ, Di Pierro E. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. Clinical Genetics. PMID 25615817 DOI: 10.1111/Cge.12562  0.378
2015 Bangari DS, Ashe KM, Desnick RJ, Maloney C, Lydon J, Piepenhagen P, Budman E, Leonard JP, Cheng SH, Marshall J, Thurberg BL. α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease. The American Journal of Pathology. 185: 651-65. PMID 25553976 DOI: 10.1016/J.Ajpath.2014.11.004  0.321
2015 Desnick RJ, Doheny DO, Chen B, Yu C, Nazarenko I, Lee B, Atherton AM, Montel R, Singh A, Kadirvel S. Fabry disease: The α-galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5′-10C>T polymorphism Molecular Genetics and Metabolism. 114. DOI: 10.1016/J.Ymgme.2014.12.067  0.313
2015 Atherton AM, Doheny D, Peck D, Christensen K, Smith K, Manwaring L, Kiesling J, Hillman R, Font-Montgomery E, Shinawi M, Grange DK, Desnick RJ, Heese BA. Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele? Molecular Genetics and Metabolism. 114. DOI: 10.1016/J.Ymgme.2014.12.013  0.355
2014 Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation. Clinical Genetics. PMID 25410422 DOI: 10.1111/Cge.12539  0.337
2014 Brown WV, Desnick RJ, Grabowski GA. JCL Roundtable: enzyme replacement therapy for lipid storage disorders. Journal of Clinical Lipidology. 8: 463-72. PMID 25234559 DOI: 10.1016/J.Jacl.2014.07.006  0.315
2014 Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F. Setleis syndrome: genetic and clinical findings in a new case with epilepsy. Pediatric Neurology. 50: 389-91. PMID 24486222 DOI: 10.1016/J.Pediatrneurol.2013.12.009  0.307
2014 Luo M, Liu L, Peter I, Zhu J, Scott SA, Zhao G, Eversley C, Kornreich R, Desnick RJ, Edelmann L. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 149-56. PMID 23788250 DOI: 10.1038/Gim.2013.84  0.312
2014 Desnick RJ, Doheny DO. Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent in patients with GLA later-onset mutations, polymorphisms, and variants Molecular Genetics and Metabolism. 111. DOI: 10.1016/J.Ymgme.2013.12.069  0.369
2014 Bier L, Yang A, Desai K, Cohen-Pfeffer J, Desnick RJ, Balwani M. Monitoring of Gaucher disease type 1 in presymptomatic pediatric patients Molecular Genetics and Metabolism. 111. DOI: 10.1016/J.Ymgme.2013.12.041  0.309
2013 Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Veterinary Journal (London, England : 1997). 198: 720-2. PMID 24239138 DOI: 10.1016/J.Tvjl.2013.10.008  0.337
2013 Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, et al. Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes and Immunity. 14: 310-6. PMID 23615072 DOI: 10.1038/Gene.2013.19  0.302
2013 Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. Journal of Hepatology. 58: 1230-43. PMID 23485521 DOI: 10.1016/J.Jhep.2013.02.014  0.352
2013 Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology (Baltimore, Md.). 58: 958-65. PMID 23424026 DOI: 10.1002/Hep.26327  0.329
2013 McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease Genetics in Medicine. 15: 618-623. PMID 23412609 DOI: 10.1038/Gim.2013.4  0.32
2013 Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Molecular Medicine (Cambridge, Mass.). 19: 26-35. PMID 23364466 DOI: 10.2119/Molmed.2012.00340  0.375
2013 Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. Molecular Medicine (Cambridge, Mass.). 19: 18-25. PMID 23348515 DOI: 10.2119/Molmed.2013.00003  0.364
2013 Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick RJ, Scott SA. Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. The Pharmacogenomics Journal. 13: 558-66. PMID 23164804 DOI: 10.1038/Tpj.2012.48  0.308
2013 Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, ... ... Desnick RJ, et al. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Human Molecular Genetics. 22: 696-703. PMID 23161670 DOI: 10.1093/Hmg/Dds477  0.361
2012 Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2012: 19-27. PMID 23233556 DOI: 10.1182/Asheducation-2012.1.19  0.322
2012 Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal diseases: Lessons from 20 years of experience and remaining challenges Annual Review of Genomics and Human Genetics. 13: 307-335. PMID 22970722 DOI: 10.1146/Annurev-Genom-090711-163739  0.327
2012 Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 120: 4496-504. PMID 22791288 DOI: 10.1182/Blood-2012-05-423186  0.322
2012 Chien YH, Lee NC, Chiang SC, Desnick RJ, Hwu WL. Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations. Molecular Medicine (Cambridge, Mass.). 18: 780-4. PMID 22437327 DOI: 10.2119/Molmed.2012.00002  0.39
2012 Chien Y, Lee N, Chiang S, Desnick RJ, Hwu W. Erratum to: A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations Molecular Medicine. 18: 1537-1537. DOI: 10.2119/Molmed.2012.00002.B.Erratum  0.359
2012 Schuchman E, Simonaro C, Wasserstein M, Desnick R. The Demographics and Distribution of Mutations Associated with Acid Sphingomyelinase-Deficient (Types A & B) Niemann-Pick Disease Molecular Genetics and Metabolism. 105: S56. DOI: 10.1016/J.Ymgme.2011.11.146  0.339
2011 Haghighi A, Masri A, Kornreich R, Desnick RJ. Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. Molecular Genetics and Metabolism. 104: 700-2. PMID 21967858 DOI: 10.1016/J.Ymgme.2011.09.013  0.396
2011 Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. Journal of Medical Genetics. 48: 716-20. PMID 21931173 DOI: 10.1136/Jmedgenet-2011-100251  0.331
2011 Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. The International Journal of Biochemistry & Cell Biology. 43: 1523-31. PMID 21801849 DOI: 10.1016/J.Biocel.2011.07.003  0.342
2011 Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. Journal of Human Genetics. 56: 682-4. PMID 21796138 DOI: 10.1038/Jhg.2011.78  0.373
2011 Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK, Christensen EI, Sorensen SS, Wibrand F, Desnick RJ. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion. Molecular Genetics and Metabolism. 104: 314-8. PMID 21641253 DOI: 10.1016/J.Ymgme.2011.05.008  0.373
2011 Balwani M, Grace ME, Desnick RJ. Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele. Journal of Inherited Metabolic Disease. 34: 789-93. PMID 21431620 DOI: 10.1007/S10545-011-9307-7  0.335
2011 Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease. Human Mutation. 32: 688-95. PMID 21305660 DOI: 10.1002/Humu.21474  0.389
2011 Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. Journal of Inherited Metabolic Disease. 34: 225-31. PMID 21103937 DOI: 10.1007/S10545-010-9237-9  0.374
2011 Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Rondelli CM, Grady JJ, Desnick RJ, Anderson KE. CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Molecular Medicine (Cambridge, Mass.). 17: 241-7. PMID 20957336 DOI: 10.2119/Molmed.2010.00130  0.333
2010 Marshall J, Ashe KM, Bangari D, McEachern K, Chuang WL, Pacheco J, Copeland DP, Desnick RJ, Shayman JA, Scheule RK, Cheng SH. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. Plos One. 5: e15033. PMID 21124789 DOI: 10.1371/Journal.Pone.0015033  0.354
2010 Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Archives of Internal Medicine. 170: 1463-9. PMID 20837833 DOI: 10.1001/Archinternmed.2010.302  0.353
2010 Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Homozygous nonsense mutations in TWIST2 cause setleis syndrome American Journal of Human Genetics. 87: 289-296. PMID 20691403 DOI: 10.1016/J.Ajhg.2010.07.009  0.389
2010 Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Human Mutation. 31: 1240-50. PMID 20672374 DOI: 10.1002/Humu.21327  0.361
2010 Bernstein DL, Bialer MG, Mehta L, Desnick RJ. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Molecular Genetics and Metabolism. 101: 130-3. PMID 20638881 DOI: 10.1016/J.Ymgme.2010.06.003  0.348
2010 Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Molecular Medicine (Cambridge, Mass.). 16: 381-8. PMID 20485863 DOI: 10.2119/Molmed.2010.00038  0.325
2010 Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Archives of Dermatology. 146: 529-33. PMID 20479301 DOI: 10.1001/Archdermatol.2010.89  0.32
2010 Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke; a Journal of Cerebral Circulation. 41: 78-81. PMID 20007919 DOI: 10.1161/Strokeaha.109.558320  0.316
2010 Bishop DF, Schneider-Yin X, Clavero S, Yoo HW, Minder EI, Desnick RJ. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood. 115: 1062-9. PMID 19965637 DOI: 10.1182/Blood-2009-04-218016  0.374
2010 Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Human Molecular Genetics. 19: 584-96. PMID 19934113 DOI: 10.1093/Hmg/Ddp525  0.363
2010 Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. 18: 23-33. PMID 19773742 DOI: 10.1038/Mt.2009.220  0.374
2009 Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM. Use of complementary and alternative medicine by patients with lysosomal storage diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 722-7. PMID 19745751 DOI: 10.1097/Gim.0B013E3181B182C3  0.3
2009 Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Human Mutation. 30: 1397-405. PMID 19621417 DOI: 10.1002/Humu.21074  0.399
2009 Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. Journal of Inherited Metabolic Disease. 32: 424-40. PMID 19387866 DOI: 10.1007/S10545-009-1077-0  0.397
2009 Clavero S, Bishop DF, Haskins ME, Kauppinen R, Giger U, Desnick RJ. Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model. Blood. 114: 3014-3014. DOI: 10.1182/Blood.V114.22.3014.3014  0.376
2008 McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 122: e341-9. PMID 18625664 DOI: 10.1542/Peds.2007-3016  0.334
2008 Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L. Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. Clinical Genetics. 27: 443-450. PMID 3924448 DOI: 10.1111/J.1399-0004.1985.Tb00229.X  0.334
2007 Ziegler RJ, Cherry M, Barbon CM, Li C, Bercury SD, Armentano D, Desnick RJ, Cheng SH. Correction of the Biochemical and Functional Deficits in Fabry Mice Following AAV8-mediated Hepatic Expression of α-galactosidase A. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 492-500. PMID 28182896 DOI: 10.1038/Sj.Mt.6300066  0.31
2007 Yasuda M, Domaradzki ME, Armentano D, Cheng SH, Bishop DF, Desnick RJ. Acute intermittent porphyria: vector optimization for gene therapy. The Journal of Gene Medicine. 9: 806-11. PMID 17654633 DOI: 10.1002/Jgm.1074  0.302
2007 Desnick RJ. Prenatal diagnosis of Fabry disease. Prenatal Diagnosis. 27: 693-4. PMID 17533632 DOI: 10.1002/Pd.1767  0.312
2007 Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Human Mutation. 28: 866-73. PMID 17464953 DOI: 10.1002/Humu.20524  0.387
2007 Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Annals of Internal Medicine. 146: 77-86. PMID 17179052 DOI: 10.7326/0003-4819-146-2-200701160-00148  0.339
2006 Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. The Journal of Pediatrics. 149: 554-9. PMID 17011332 DOI: 10.1016/J.Jpeds.2006.06.034  0.334
2006 Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. American Journal of Human Genetics. 79: 31-40. PMID 16773563 DOI: 10.1086/504601  0.442
2006 Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Human Genomics. 2: 297-309. PMID 16595074 DOI: 10.1186/1479-7364-2-5-297  0.415
2006 Nance CS, Klein CJ, Banikazemi M, Dikman SH, Phelps RG, McArthur JC, Rodriguez M, Desnick RJ. Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Archives of Neurology. 63: 453-7. PMID 16533976 DOI: 10.1001/Archneur.63.3.453  0.37
2006 Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. American Journal of Human Genetics. 78: 645-58. PMID 16532394 DOI: 10.1086/502667  0.335
2006 McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of Type A Niemann-Pick disease: Possible endpoints for therapeutic trials Neurology. 66: 228-232. PMID 16434659 DOI: 10.1212/01.Wnl.0000194208.08904.0C  0.3
2006 Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Molecular Genetics and Metabolism. 87: 213-218. PMID 16378744 DOI: 10.1016/J.Ymgme.2005.11.001  0.417
2005 Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick RJ. Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families Journal of Inherited Metabolic Disease. 28: 1019-1026. PMID 16435195 DOI: 10.1007/S10545-005-0197-4  0.391
2005 Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. Archives of Dermatology. 141: 1575-9. PMID 16365260 DOI: 10.1001/Archderm.141.12.1575  0.405
2005 Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ, Schuchman EH, Cheng SH. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. 12: 431-40. PMID 16099409 DOI: 10.1016/J.Ymthe.2005.03.011  0.331
2005 Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Molecular Genetics and Metabolism. 85: 255-9. PMID 15939645 DOI: 10.1016/J.Ymgme.2005.04.009  0.325
2005 Shabbeer J, Robinson M, Desnick RJ. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Human Mutation. 25: 299-305. PMID 15712228 DOI: 10.1002/Humu.20144  0.42
2004 Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study Pediatrics. 114. PMID 15545621 DOI: 10.1542/Peds.2004-0887  0.318
2004 Solis C, Martinez-Bermejo A, Naidich TP, Kaufmann WE, Astrin KH, Bishop DF, Desnick RJ. Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Archives of Neurology. 61: 1764-70. PMID 15534187 DOI: 10.1001/Archneur.61.11.1764  0.339
2004 Edelmann L, Hashmi G, Song Y, Han Y, Kornreich R, Desnick RJ. Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 6: 431-8. PMID 15371909 DOI: 10.1097/01.Gim.0000140836.66050.88  0.303
2004 Desnick RJ. Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opinion On Biological Therapy. 4: 1167-1176. PMID 15268683 DOI: 10.1517/14712598.4.7.1167  0.317
2004 McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B Ophthalmology. 111: 1424-1427. PMID 15234149 DOI: 10.1016/J.Ophtha.2003.10.034  0.34
2004 Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. Journal of Inherited Metabolic Disease. 27: 385-410. PMID 15190196 DOI: 10.1023/B:Boli.0000031101.12838.C6  0.359
2004 Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease American Journal of Human Genetics. 75: 65-74. PMID 15154115 DOI: 10.1086/422366  0.323
2004 Desnick RJ, Brady RO. Fabry disease in childhood. The Journal of Pediatrics. 144: S20-6. PMID 15126980 DOI: 10.1016/J.Jpeds.2004.01.051  0.381
2004 Tukel T, Shalata A, Present D, Rachmilewitz D, Mayer L, Grant D, Risch N, Desnick RJ. Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. American Journal of Human Genetics. 74: 623-36. PMID 15024686 DOI: 10.1086/382226  0.336
2004 Ziegler RJ, Lonning SM, Armentano D, Li C, Souza DW, Cherry M, Ford C, Barbon CM, Desnick RJ, Gao G, Wilson JM, Peluso R, Godwin S, Carter BJ, Gregory RJ, et al. AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Molecular Therapy : the Journal of the American Society of Gene Therapy. 9: 231-40. PMID 14759807 DOI: 10.1016/J.Ymthe.2003.11.015  0.329
2004 Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH, Yew NS. Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors. The Journal of Gene Medicine. 6: 85-92. PMID 14716680 DOI: 10.1002/Jgm.468  0.344
2004 Meehan SM, Junsanto T, Rydel JJ, Desnick RJ. Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. American Journal of Kidney Diseases. 43: 164-171. PMID 14712441 DOI: 10.1053/J.Ajkd.2003.09.022  0.307
2004 Barbon CM, Ziegler RJ, Bercury SD, Cherry M, Li C, Schuchman E, Desnick RJ, Lukason MJ, Lonning S, Cheng SH. 853. Efficacy of AAV-Mediated Expression of Acid Sphingomyelinase at Correcting the Visceral and Pulmonary Manifestations of Niemann-Pick B Disease Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.761  0.321
2003 Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Molecular Genetics and Metabolism. 80: 307-14. PMID 14680977 DOI: 10.1016/S1096-7192(03)00136-7  0.416
2003 Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Human Mutation. 22: 486-92. PMID 14635108 DOI: 10.1002/Humu.10275  0.377
2003 Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney International. 64: 801-7. PMID 12911529 DOI: 10.1046/J.1523-1755.2003.00160.X  0.36
2003 Yasuda M, Shabbeer J, Osawa M, Desnick RJ. Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation American Journal of Human Genetics. 73: 162-173. PMID 12796853 DOI: 10.1086/376608  0.371
2003 Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R, Saraiva Pereira ML. Molecular characterization of phenylketonuria in South Brazil. Molecular Genetics and Metabolism. 79: 17-24. PMID 12765842 DOI: 10.1016/S1096-7192(03)00032-5  0.393
2003 Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. The New England Journal of Medicine. 348: 1664-70. PMID 12711741 DOI: 10.1056/Nejmoa021502  0.315
2003 Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy Annals of Internal Medicine. 138: 338-346. PMID 12585833 DOI: 10.7326/0003-4819-138-4-200302180-00014  0.367
2003 Germain DP, Shabbeer J, Cotigny S, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Molecular Medicine (Cambridge, Mass.). 8: 306-12. PMID 12428061  0.317
2003 Desnick RJ, Schuchman EH. Correction: Enzyme replacement and enhancement therapies: lessons from lysosomal disorders Nature Reviews Genetics. 4: 157-157. DOI: 10.1038/Nrg1016  0.328
2002 Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations American Journal of Human Genetics. 71: 1413-1419. PMID 12369017 DOI: 10.1086/345074  0.372
2002 Shabbeer J, Yasuda M, Luca E, Desnick RJ. Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype Molecular Genetics and Metabolism. 76: 23-30. PMID 12175777 DOI: 10.1016/S1096-7192(02)00012-4  0.394
2002 Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial dysautonomia: Detection of the IKBKAP IVS20+6T C and R696P mutations and frequencies among Ashkenazi Jews American Journal of Medical Genetics. 110: 253-257. PMID 12116234 DOI: 10.1002/Ajmg.10450  0.36
2002 Asfaw B, Ledvinová J, DobrovolÅ„y R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D. Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases. Journal of Lipid Research. 43: 1096-104. PMID 12091494 DOI: 10.1194/Jlr.M100423-Jlr200  0.312
2002 Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ. Congenital erythropoietic porphyria: Identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene British Journal of Haematology. 117: 980-987. PMID 12060141 DOI: 10.1046/J.1365-2141.2002.03558.X  0.373
2002 Ashley GA, Desnick RJ, Gordon RE, Gordon JW. High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease. Journal of Investigative Medicine : the Official Publication of the American Federation For Clinical Research. 50: 185-92. PMID 12033283 DOI: 10.2310/6650.2002.33432  0.787
2002 Ziegler RJ, Li C, Cherry M, Zhu Y, Hempel D, van Rooijen N, Ioannou YA, Desnick RJ, Goldberg MA, Yew NS, Cheng SH. Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease. Human Gene Therapy. 13: 935-45. PMID 12031126 DOI: 10.1089/10430340252939041  0.321
2002 Edelmann L, Dong J, Desnick RJ, Kornreich R. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population American Journal of Human Genetics. 70: 1023-1027. PMID 11845410 DOI: 10.1086/339519  0.347
2002 Desnick RJ, Banikazemi M, Wasserstein M. Enzyme replacement therapy for fabry disease, an inherited nephropathy Clinical Nephrology. 57: 1-8. PMID 11837797 DOI: 10.5414/Cnp57001  0.331
2002 Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan J. Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype American Journal of Human Genetics. 70: 994-1002. PMID 11828341 DOI: 10.1086/339431  0.367
2002 Germain DP, Shabbeer J, Cotigny S, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Molecular Medicine. 8: 306-312. DOI: 10.1007/Bf03402156  0.441
2001 Desnick RJ, Wasserstein MP, Banikazemi M. Fabry disease (α-Galactosidase a deficiency): Renal Involvement and enzyme replacement therapy Contributions to Nephrology. 136: 174-192. PMID 11688379 DOI: 10.1159/000060184  0.309
2001 Desnick RJ, Kaback MM. Future perspectives for Tay-Sachs disease. Advances in Genetics. 44: 349-356. PMID 11596996 DOI: 10.1016/S0065-2660(01)44091-0  0.319
2001 Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. The New England Journal of Medicine. 345: 9-16. PMID 11439963 DOI: 10.1056/Nejm200107053450102  0.363
2001 Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. The New England Journal of Medicine. 345: 25-32. PMID 11439944 DOI: 10.1056/Nejm200107053450104  0.337
2001 Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nature Genetics. 28: 261-5. PMID 11431697 DOI: 10.1038/90100  0.349
2001 Desnick RJ. Enzyme replacement and beyond Journal of Inherited Metabolic Disease. 24: 251-265. PMID 11405344 DOI: 10.1023/A:1010331404448  0.338
2001 Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ. Nonradioactive Detection of the Common Connexin 26 167delT and 35delG Mutations and Frequencies among Ashkenazi Jews Molecular Genetics and Metabolism. 73: 160-163. PMID 11386851 DOI: 10.1006/Mgme.2001.3182  0.352
2001 Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. Journal of Human Genetics. 46: 192-6. PMID 11322659 DOI: 10.1007/S100380170088  0.804
2001 Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening Genetics in Medicine. 3: 149-154. PMID 11280952 DOI: 10.1097/00125817-200103000-00010  0.304
2001 Solis C, Aizencang GI, Astrin KH, Bishop DF, Desnick RJ. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria Journal of Clinical Investigation. 107: 753-762. PMID 11254675 DOI: 10.1172/Jci10642  0.342
2001 Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, ... ... Desnick RJ, et al. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. American Journal of Human Genetics. 68: 711-22. PMID 11179018 DOI: 10.1086/318809  0.311
2001 Akolkar PN, Gulwani-Akolkar B, Lin X, Zhou Z, Daly M, Katz S, Levine J, Present D, Gelb B, Desnick R, Mayer L, Silver J. The IBD1 locus for susceptibility to Crohn’s disease has a greater impact in Ashkenazi Jews with early onset disease The American Journal of Gastroenterology. 96: 1127-1132. DOI: 10.1016/S0002-9270(01)02321-8  0.339
2000 Ramdall RB, Cunha L, Astrin KH, Katz DR, Anderson KE, Glucksman M, Bottomley SS, Desnick RJ. Acute intermittent porphyria: Novel missense mutations in the human hydroxymethylbilane synthase gene Genetics in Medicine. 2: 290-295. PMID 11399210 DOI: 10.1097/00125817-200009000-00004  0.363
2000 Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ. Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. American Journal of Human Genetics. 68: 14-25. PMID 11115376 DOI: 10.1086/316953  0.331
2000 Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Sa Miranda C, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher disease: The origins of the ashkenazi jewish N370S anti 84GG acid β-glucosidase mutations American Journal of Human Genetics. 66: 1821-1832. PMID 10777718 DOI: 10.1086/302946  0.328
2000 Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. European Journal of Human Genetics : Ejhg. 8: 95-102. PMID 10757640 DOI: 10.1038/Sj.Ejhg.5200422  0.359
2000 Verghese J, Goldberg RF, Desnick RJ, Grace ME, Goldman JE, Lee SC, Dickson DW, Rapin I. Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. Archives of Neurology. 57: 389-95. PMID 10714667 DOI: 10.1001/Archneur.57.3.389  0.305
2000 Ohta M, Ohnishi T, Ioannou YA, Hodgson ME, Matsuura F, Desnick RJ. Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides. Glycobiology. 10: 251-61. PMID 10704524 DOI: 10.1093/Glycob/10.3.251  0.303
1999 Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Molecular Medicine (Cambridge, Mass.). 5: 806-11. PMID 10666480 DOI: 10.1007/Bf03401993  0.798
1999 Siervi AD, Rossetti MV, Parera VE, Astrin KH, Aizencang GI, Glass IA, Batlle AMdC, Desnick RJ. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. American Journal of Medical Genetics. 86: 366-375. PMID 10494093 DOI: 10.1002/(Sici)1096-8628(19991008)86:4<366::Aid-Ajmg11>3.0.Co;2-#  0.396
1999 Ziegler RJ, Yew NS, Li C, Cherry M, Berthelette P, Romanczuk H, Ioannou YA, Zeidner KM, Desnick RJ, Cheng SH. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Human Gene Therapy. 10: 1667-82. PMID 10428212 DOI: 10.1089/10430349950017671  0.375
1999 Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine- responsive megaloblastic anaemia syndrome Nature Genetics. 22: 309-312. PMID 10391223 DOI: 10.1038/10385  0.339
1999 Qu Y, Shapira E, Desnick RJ. Metachromatic Leukodystrophy: Subtype Genotype/Phenotype Correlations and Identification of Novel Missense Mutations (P148L and P191T) Causing the Juvenile-Onset Disease Molecular Genetics and Metabolism. 67: 206-212. PMID 10381328 DOI: 10.1006/Mgme.1999.2865  0.388
1999 Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM. Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). American Journal of Medical Genetics. 84: 420-4. PMID 10360396 DOI: 10.1002/(Sici)1096-8628(19990611)84:5<420::Aid-Ajmg6>3.0.Co;2-Z  0.804
1999 He X, Li CM, Simonaro CM, Wan Q, Haskins ME, Desnick RJ, Schuchman EH. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats Molecular Genetics and Metabolism. 67: 106-112. PMID 10356309 DOI: 10.1006/Mgme.1999.2860  0.374
1999 Wasserstein MP, Martignetti JA, Zeitlin R, Lumerman H, Solomon M, Grace ME, Desnick RJ. Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. American Journal of Medical Genetics. 84: 334-9. PMID 10340647 DOI: 10.1002/(Sici)1096-8628(19990604)84:4<334::Aid-Ajmg5>3.0.Co;2-P  0.401
1999 Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. The Journal of Clinical Investigation. 103: 817-23. PMID 10079102 DOI: 10.1172/Jci5168  0.386
1999 Hou WS, Brömme D, Zhao Y, Mehler E, Dushey C, Weinstein H, Miranda CS, Fraga C, Greig F, Carey J, Rimoin DL, Desnick RJ, Gelb BD. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. The Journal of Clinical Investigation. 103: 731-8. PMID 10074491 DOI: 10.1172/Jci653  0.358
1999 Topaloglu AK, Sansaricq C, Fox JE, Bale AE, Tuchman M, Desnick RJ. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal of Inherited Metabolic Disease. 22: 82-3. PMID 10070622 DOI: 10.1023/A:1005411601985  0.342
1999 Banikazemi M, Diaz GA, Vossough P, Jalali M, Desnick RJ, Gelb BD. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23 Molecular Genetics and Metabolism. 66: 193-198. PMID 10066388 DOI: 10.1006/Mgme.1998.2799  0.32
1999 Zeidner KM, Desnick RJ, Ioannou YA. Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Analytical Biochemistry. 267: 104-13. PMID 9918661 DOI: 10.1006/Abio.1998.2966  0.353
1999 Diaz GA, Gelb BD, Risch N, Nygaard T, Maire I, Poenaru L, Caillaud C, Sa Miranda C, Amaral O, Mistry PK, Desnick RJ. Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation Pediatric Research. 45: 137A-137A. DOI: 10.1203/00006450-199904020-00814  0.361
1999 Solis C, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ. Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). Molecular Medicine. 5: 664-671. DOI: 10.1007/Bf03401985  0.39
1998 Mendez M, Sorkin L, Rossetti MV, Astrin KH, del C Batlle AM, Parera VE, Aizencang G, Desnick RJ. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. American Journal of Human Genetics. 63: 1363-75. PMID 9792863 DOI: 10.1086/302119  0.373
1998 Wang AM, Ioannou YA, Zeidner KM, Desnick RJ. Murine alpha-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an alpha-galactosidase gene family. Molecular Genetics and Metabolism. 65: 165-73. PMID 9787108 DOI: 10.1006/Mgme.1998.2750  0.343
1998 Kauppinen R, Glass IA, Aizencang G, Astrin KH, Atweh GF, Desnick RJ. Congenital Erythropoietic Porphyria: Prolonged High-Level Expression and Correction of the Heme Biosynthetic Defect by Retroviral-Mediated Gene Transfer into Porphyric and Erythroid Cells Molecular Genetics and Metabolism. 65: 10-17. PMID 9787090 DOI: 10.1006/Mgme.1998.2739  0.303
1998 Desnick RJ, Schuchman EH. Gene therapy for genetic diseases Acta Paediatrica Japonica (Overseas Edition). 40: 191-203. PMID 9695290 DOI: 10.1111/J.1442-200X.1998.Tb01912.X  0.305
1998 Ioannou YA, Zeidner KM, Grace ME, Desnick RJ. Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility. The Biochemical Journal. 332: 789-97. PMID 9620884 DOI: 10.1042/Bj3320789  0.325
1998 Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. Human Mutation. 11: 328-30. PMID 9554750 DOI: 10.1002/(Sici)1098-1004(1998)11:4<328::Aid-Humu11>3.0.Co;2-N  0.456
1998 Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. American Journal of Human Genetics. 62: 848-54. PMID 9529353 DOI: 10.1086/301795  0.306
1998 Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH. Molecular Genetics of Congenital Erythropoietic Porphyria Seminars in Liver Disease. 18: 77-84. PMID 9516681 DOI: 10.1055/S-2007-1007143  0.421
1998 Matsuura F, Ohta M, Ioannou YA, Desnick RJ. Human alpha-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells. Glycobiology. 8: 329-39. PMID 9499380 DOI: 10.1093/Glycob/8.4.329  0.331
1998 Osman N, McKenzie IF, Ostenried K, Ioannou YA, Desnick RJ, Sandrin MS. Combined transgenic expression of alpha-galactosidase and alpha1,2-fucosyltransferase leads to optimal reduction in the major xenoepitope Galalpha(1,3)Gal. Proceedings of the National Academy of Sciences of the United States of America. 94: 14677-82. PMID 9405672 DOI: 10.1073/Pnas.94.26.14677  0.309
1998 McGovern MM, Wozniak S, Desnick RJ, Schuchman EH. Genotype-Phenotype Correlations in Type B Niemann-Pick Disease |[bull]| 725 Pediatric Research. 43: 126-126. DOI: 10.1203/00006450-199804001-00746  0.35
1998 Hou W, Bromme D, Mehler E, Weinstein H, Desnick RJ, Gelb BD. Pycnodysostosis: Expression and Biochemical Characterization of Missense Mutations in the Cathepsin K Gene • 718 Pediatric Research. 43: 125-125. DOI: 10.1203/00006450-199804001-00739  0.362
1998 Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, Yetgin S, Ersoy F, Aizencang G, Astrin KH, Desnick RJ. Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation Blood. 92: 4053-4058. DOI: 10.1182/Blood.V92.11.4053.423K38_4053_4058  0.335
1997 Fitzmaurice TF, Desnick RJ, Bishop DF. Human α-galactosidase A : High plasma activity expressed by the -30G→A allele Journal of Inherited Metabolic Disease. 20: 643-657. PMID 9323559 DOI: 10.1023/A:1005366224351  0.372
1997 Caggana M, Ashley GA, Desnick RJ, Eng CM. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. American Journal of Medical Genetics. 71: 329-35. PMID 9268104 DOI: 10.1002/(Sici)1096-8628(19970822)71:3<329::Aid-Ajmg14>3.0.Co;2-M  0.79
1997 Grace ME, Desnick RJ, Pastores GM. Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. The Journal of Clinical Investigation. 99: 2530-7. PMID 9153297 DOI: 10.1172/Jci119437  0.418
1997 Gelb BD, Shi GP, Heller M, Weremowicz S, Morton C, Desnick RJ, Chapman HA. Structure and chromosomal assignment of the human cathepsin K gene Genomics. 41: 258-262. PMID 9143502 DOI: 10.1006/Geno.1997.4631  0.319
1997 Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G, Eng CM, Desnick RJ. Pulmonary involvement in Fabry disease. American Journal of Respiratory and Critical Care Medicine. 155: 1004-10. PMID 9116979 DOI: 10.1164/Ajrccm.155.3.9116979  0.315
1997 Abad MM, Cotter PD, Fodor FH, Larson S, Ginsberg-Fellner F, Desnick RJ, Abdenur JE. Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus Metabolism-Clinical and Experimental. 46: 445-449. PMID 9109852 DOI: 10.1016/S0026-0495(97)90064-0  0.304
1997 Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Molecular Medicine (Cambridge, Mass.). 3: 174-82. PMID 9100224 DOI: 10.1007/Bf03401671  0.799
1997 Gotlib RW, Bishop DF, Wang AM, Zeidner KM, Ioannou YA, Adler DA, Disteche CM, Desnick RJ. The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A. Biochemical and Molecular Medicine. 57: 139-48. PMID 8733892 DOI: 10.1006/Bmme.1996.0020  0.324
1997 Pastores GM, Ashton-Prolla P, Sogni A, Desnick RJ, Grace ME. Heteroallelisms for acid β-glucosidase mutations L444P and E326K results in severe neonatal Gaucher disease. • 620 Pediatric Research. 41: 106-106. DOI: 10.1203/00006450-199704001-00640  0.378
1997 Ioannou YA, Zeidner KM, Friedman BA, Desnick RJ. Fabry disease: Effective tissue substrate depletion following enzyme replacement in α-galactosidase A deficient mice. • 607 Pediatric Research. 41: 104-104. DOI: 10.1203/00006450-199704001-00627  0.337
1997 Eng CM, Ashley GA, Enriquez AL, Desnick RJ. Fabry Disease: Eighteen Mutations in the α-Galactosidase A Gene Causing the Classic Phenotype. † 599 Pediatric Research. 41: 102-102. DOI: 10.1203/00006450-199704001-00619  0.793
1997 Eng CM, Schechter C, Robinowitz J, Fulop G, Burgert T, Levy B, Zinberg R, Desnick RJ. Prenatal Genetic Carrier Testing Using Triple Disease Screening Jama. 278: 1268-1272. DOI: 10.1001/Jama.1997.03550150072038  0.304
1996 Gelb BD, Moissoglu K, Zhang J, Martignetti JA, Brömme D, Desnick RJ. Cathepsin K: Isolation and Characterization of the Murine cDNA and Genomic Sequence, the Homologue of the Human Pycnodysostosis Gene Biochemical and Molecular Medicine. 59: 200-206. PMID 8986645 DOI: 10.1006/Bmme.1996.0088  0.305
1996 Koch J, Gärtner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase: Identification of the first molecular lesion causing farber disease Journal of Biological Chemistry. 271: 33110-33115. PMID 8955159 DOI: 10.1074/Jbc.271.51.33110  0.344
1996 Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, Desnick RJ. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries European Journal of Human Genetics. 4: 219-224. PMID 8875188 DOI: 10.1159/000472202  0.4
1996 Xu W, Astrin KH, Desnick RJ. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. Human Mutation. 7: 187-92. PMID 8829650 DOI: 10.1002/(Sici)1098-1004(1996)7:3<187::Aid-Humu1>3.0.Co;2-8  0.39
1996 Qu Y, Abdenur JE, Eng CM, Desnick RJ. MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia Prenatal Diagnosis. 16: 333-336. PMID 8734807 DOI: 10.1002/(Sici)1097-0223(199604)16:4<333::Aid-Pd861>3.0.Co;2-G  0.38
1996 Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency Science. 273: 1236-1239. PMID 8703060 DOI: 10.1126/Science.273.5279.1236  0.344
1996 Wu C, Xu W, Kozak CA, Desnick RJ. Mouse uroporphyrinogen decarboxylase: CDNA cloning, expression, and mapping Mammalian Genome. 7: 349-352. PMID 8661721 DOI: 10.1007/S003359900101  0.316
1995 Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G. Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease The Tohoku Journal of Experimental Medicine. 177: 117-123. PMID 8693491 DOI: 10.1620/Tjem.177.117  0.408
1995 KUNIEDA T, SIMONARO CM, YOSHIDA M, IKADAI H, LEVAN G, DESNICK RJ, SCHUCHMAN EH. Mucopolysaccharidosis Type VI in Rats: Isolation of cDNAs Encoding Arylsulfatase B, Chromosomal Localization of the Gene, and Identification of the Mutation Genomics. 29: 582-587. PMID 8575749 DOI: 10.1006/Geno.1995.9962  0.308
1995 Lee GY, Astrin KH, Desnick RJ. Acute intermittent porphyria: A single‐base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide American Journal of Medical Genetics. 58: 155-158. PMID 8533808 DOI: 10.1002/Ajmg.1320580213  0.388
1995 Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K. Purification, characterization, and biosynthesis of human acid ceramidase Journal of Biological Chemistry. 270: 11098-11102. PMID 7744740 DOI: 10.1074/Jbc.270.19.11098  0.31
1995 Saifudeen Z, Desnick RJ, Ehrlich M. A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding. Febs Letters. 371: 181-4. PMID 7672123 DOI: 10.1016/0014-5793(95)00891-C  0.342
1995 Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nature Genetics. 10: 288-93. PMID 7670466 DOI: 10.1038/Ng0795-288  0.324
1995 Gelb BD, Edelson JG, Desnick RJ. Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nature Genetics. 10: 235-7. PMID 7663521 DOI: 10.1038/Ng0695-235  0.308
1995 Xu W, Kozak CA, Desnick RJ. Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7. Genomics. 26: 556-62. PMID 7607680 DOI: 10.1016/0888-7543(95)80175-L  0.331
1995 Yeyati PL, Agmon V, Fillat C, Dinur T, Dagan A, Desnick RJ, Gatt S, Schuchman EH. Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: Direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction Human Gene Therapy. 6: 975-983. PMID 7578419 DOI: 10.1089/Hum.1995.6.8-975  0.305
1995 Pastores GM, Hermann G, Norton K, Desnick RJ. Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy. Pediatric Radiology. 25: 486-7. PMID 7491212 DOI: 10.1007/Bf02019078  0.332
1995 Schuchman EH, Ioannou YA, Rattazzi MC, Desnick RJ. Neural gene therapy for inherited diseases with mental retardation: Principles and prospects Mental Retardation and Developmental Disabilities Research Reviews. 1: 39-48. DOI: 10.1002/Mrdd.1410010109  0.302
1994 Wang AM, Kanzaki T, Desnick RJ. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. Journal of Clinical Investigation. 94: 839-845. PMID 8040340 DOI: 10.1172/Jci117404  0.39
1994 Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme. The Journal of Clinical Investigation. 94: 1927-37. PMID 7962538 DOI: 10.1172/Jci117543  0.397
1994 Eng CM, Desnick RJ. Molecular basis of fabry disease: Mutations and polymorphisms in the human α‐galactosidase A gene Human Mutation. 3: 103-111. PMID 7911050 DOI: 10.1002/Humu.1380030204  0.408
1994 Astrin KH, Desnick RJ. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Human Mutation. 4: 243-252. PMID 7866402 DOI: 10.1002/Humu.1380040403  0.407
1993 Levran O, Desnick RJ, Schuchman EH. Identification of a 3′ acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with niemann - pick disease Human Molecular Genetics. 2: 205-206. PMID 8499909 DOI: 10.1093/Hmg/2.2.205  0.374
1993 Levran O, Desnick RJ, Schuchman EH. Type a niemann-pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients Human Mutation. 2: 317-319. PMID 8401540 DOI: 10.1002/Humu.1380020414  0.384
1993 Yoo HW, Astrin KH, Desnick RJ. Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program Journal of Korean Medical Science. 8: 84-91. PMID 8343225 DOI: 10.3346/Jkms.1993.8.1.84  0.416
1993 Kornreich R, Desnick RJ. Fabry disease: Detection of gene rearrangements in the human α‐Galactosidase A Gene by Multiplex PCR Amplification Human Mutation. 2: 108-111. PMID 8318986 DOI: 10.1002/Humu.1380020208  0.365
1993 Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics. 15: 21-9. PMID 7916736 DOI: 10.1006/Geno.1993.1005  0.344
1993 Kanzaki T, Yokota M, Irie F, Hirabayashi Y, Wang AM, Desnick RJ. Angiokeratoma Corporis Diffusum With Glycopeptiduria due to Deficient Lysosomal a-N-Acetylgalactosaminidase Activity: Clinical, Morphologic, and Biochemical Studies Archives of Dermatology. 129: 460-465. DOI: 10.1001/Archderm.1993.01680250072009  0.337
1992 Warner CA, Yoo HW, Roberts AG, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. The Journal of Clinical Investigation. 89: 693-700. PMID 1737856 DOI: 10.1172/Jci115637  0.367
1992 Suchi M, Dinur T, Desnick RJ, Gatt S, Pereira L, Gilboa E, Schuchman EH. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: Correction of the metabolic defect in cultured Niemann-Pick disease cells Proceedings of the National Academy of Sciences of the United States of America. 89: 3227-3231. PMID 1565614 DOI: 10.1073/Pnas.89.8.3227  0.301
1992 Desnick RJ, Schuette JL, Golbus MS, Jackson L, Lubs HA, Ledbetter DH, Mahoney MJ, Pergament E, Simpson JL, Zachary JM, Fowler SE, Rhoads GG, De la Cruz F. First-trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study Prenatal Diagnosis. 12: 357-372. PMID 1523203 DOI: 10.1002/Pd.1970120505  0.343
1992 Dinur T, Schuchman EH, Fibach F, Dagan A, Suchi M, Desnick RJ, Gatt S. Toward gene therapy for niemann-pick disease (NPD): Separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin Human Gene Therapy. 3: 633-639. PMID 1482703 DOI: 10.1089/Hum.1992.3.6-633  0.323
1992 Jackson CE, Yuhki N, Desnick RJ, Haskins ME, O'Brien SJ, Schuchman EH. Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1. Genomics. 14: 403-11. PMID 1427856 DOI: 10.1016/S0888-7543(05)80233-2  0.333
1992 Kornreich R, Astrin KH, Desnick RJ. Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-glactosidase A Genomics. 13: 70-74. PMID 1349583 DOI: 10.1016/0888-7543(92)90203-5  0.325
1992 Ioannou YA, Bishop DF, Desnick RJ. Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. The Journal of Cell Biology. 119: 1137-50. PMID 1332979 DOI: 10.1083/Jcb.119.5.1137  0.33
1992 Guzman NA, Ascari WQ, Cutroneo KR, Desnick RJ. Comparison between avian and human prolyl 4-hydroxylases: studies on the holomeric enzymes and their constituent subunits. Journal of Cellular Biochemistry. 48: 172-89. PMID 1320042 DOI: 10.1002/Jcb.240480209  0.333
1992 Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease Genomics. 12: 643-650. PMID 1315304 DOI: 10.1016/0888-7543(92)90288-4  0.339
1992 Takahashi T, Desnick RJ, Takada G, Schuchman EH. Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with Type B Niemann - Pick disease Human Mutation. 1: 70-71. PMID 1301192 DOI: 10.1002/Humu.1380010111  0.376
1992 Levran O, Desnick R, Schuchman E. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood. 80: 2081-2087. DOI: 10.1182/Blood.V80.8.2081.2081  0.388
1992 Warner CA, Poh-Fitzpatrick MB, Zaider EF, Tsai S, Desnick RJ. Congenital Erythropoietic Porphyria A Mild Variant With Low Uroporphyrin I Levels due to a Missense Mutation (A66V) Encoding Residual Uroporphyrinogen III Synthase Activity Archives of Dermatology. 128: 1243-1248. DOI: 10.1001/Archderm.1992.01680190099013  0.378
1991 Levran O, Desnick RJ, Schuchman EH. Niemann-Pick disease: A frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients Proceedings of the National Academy of Sciences of the United States of America. 88: 3748-3752. PMID 2023926 DOI: 10.1073/Pnas.88.9.3748  0.396
1991 Kanzaki T, Wang AM, Desnick RJ. Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. Journal of Clinical Investigation. 88: 707-711. PMID 1907616 DOI: 10.1172/Jci115357  0.32
1991 Levran O, Desnick RJ, Schuchman EH. Niemann-Pick type B disease: Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in Type A and B patients Journal of Clinical Investigation. 88: 806-810. PMID 1885770 DOI: 10.1172/Jci115380  0.381
1991 Scheidt WV, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EGJ, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease with manifestations confined to the myocardium. The New England Journal of Medicine. 324: 395-399. PMID 1846223 DOI: 10.1056/Nejm199102073240607  0.338
1991 Wang AM, Desnick RJ. Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene☆ Genomics. 10: 133-142. PMID 1646157 DOI: 10.1016/0888-7543(91)90493-X  0.348
1990 Wang AM, Schindler D, Desnick R. Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. The Journal of Clinical Investigation. 86: 1752-6. PMID 2243144 DOI: 10.1172/Jci114901  0.393
1990 Schindler D, Kanzaki T, Desnick RJ. A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. Clinica Chimica Acta; International Journal of Clinical Chemistry. 190: 81-91. PMID 2208741 DOI: 10.1016/0009-8981(90)90282-W  0.324
1990 Desnick RJ, Wang AM. Schindler Disease: an Inherited Neuroaxonal Dystrophy due to α-N-Acetylgalactosaminidase Deficiency Journal of Inherited Metabolic Disease. 13: 549-559. PMID 2122121 DOI: 10.1007/Bf01799512  0.314
1990 Kanzaki T, Wang AM, Desnick RJ. An exonic point mutation was elucidated in novel angiokeratoma corporis diffusum Journal of Dermatological Science. 1: 386. DOI: 10.1016/0923-1811(90)90638-T  0.317
1989 Schindler D, Bishop DF, Wolfe DE, Wang AM, Egge H, Lemieux RU, Desnick RJ. Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. The New England Journal of Medicine. 320: 1735-40. PMID 2733734 DOI: 10.1056/Nejm198906293202606  0.31
1989 Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. Journal of Clinical Investigation. 83: 1390-1399. PMID 2539398 DOI: 10.1172/Jci114027  0.443
1988 Tsai S, Bishop DF, Desnick RJ. Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA Proceedings of the National Academy of Sciences of the United States of America. 85: 7049-7053. PMID 3174619 DOI: 10.1073/Pnas.85.19.7049  0.316
1988 Bishop DF, Kornreich R, Desnick RJ. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proceedings of the National Academy of Sciences of the United States of America. 85: 3903-3907. PMID 2836863 DOI: 10.1073/Pnas.85.11.3903  0.359
1987 Desai PK, Astrin KH, Thung SN, Gordon RE, Short MP, Coates PM, Desnick RJ. Cholesteryl ester storage disease: pathologic changes in an affected fetus. American Journal of Medical Genetics. 26: 689-98. PMID 3565483 DOI: 10.1002/Ajmg.1320260324  0.349
1987 Astrin KH, Bishop DF, Wetmur JG, Kaul B, Davidow B, Desnick RJ. δ-Aminolevulinic Acid Dehydratase Isozymes and Lead Toxicitya Annals of the New York Academy of Sciences. 514: 23-29. PMID 3442386 DOI: 10.1111/J.1749-6632.1987.Tb48757.X  0.328
1986 Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry's disease. Journal of the American College of Cardiology. 7: 1157-61. PMID 3082958 DOI: 10.1016/S0735-1097(86)80238-8  0.354
1985 Troy K, Cuttner J, Reilly M, Grabowski G, Desnick R. Tartrate-resistant acid phosphatase staining of monocytes in Gaucher disease American Journal of Hematology. 19: 237-244. PMID 4014224 DOI: 10.1002/Ajh.2830190305  0.307
1985 Mustajoki P, Desnick RJ. Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland. Bmj. 291: 505-509. PMID 3928029 DOI: 10.1136/Bmj.291.6494.505  0.341
1985 Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ, Opitz JM, Reynolds JF. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. American Journal of Medical Genetics. 21: 529-549. PMID 3927728 DOI: 10.1002/Ajmg.1320210316  0.353
1985 Desnick RJ, Ostasiewicz LT, Tishler PA, Mustajoki P. Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate. Journal of Clinical Investigation. 76: 865-874. PMID 3897290 DOI: 10.1172/Jci112044  0.381
1985 Calhoun DH, Bishop DF, Bernstein HS, Quinn M, Hantzopoulos P, Desnick RJ. Fabry disease: Isolation of a cDNA clone encoding human α-galactosidase A Proceedings of the National Academy of Sciences of the United States of America. 82: 7364-7368. PMID 2997789 DOI: 10.1073/Pnas.82.21.7364  0.313
1984 Hermann G, Goldblatt J, Desnick RJ. Kümmell disease: delayed collapse of the traumatised spine in a patient with Gaucher Type 1 disease British Journal of Radiology. 57: 833-835. PMID 6478142 DOI: 10.1259/0007-1285-57-681-833  0.329
1983 Martiniuk F, Smith M, Ellenbogen A, Desnick RJ, Astrin K, Mitra J, Hirschhorn R. Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11. Cytogenetic and Genome Research. 35: 110-116. PMID 6342981 DOI: 10.1159/000131851  0.306
1982 Rose JS, Grabowski GA, Barnett SH, Desnick RJ. Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease American Journal of Roentgenology. 139: 1202-1204. PMID 6983268 DOI: 10.2214/Ajr.139.6.1202  0.326
1982 Grabowski GA, Dinur T, Gatt S, Desnick RJ. Gaucher Type 1 (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate Clinica Chimica Acta. 124: 123-135. PMID 6889929 DOI: 10.1016/0009-8981(82)90326-6  0.313
1982 Darlington GJ, Astrin KH, Muirhead SP, Desnick RJ, Smith M. Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis. Proceedings of the National Academy of Sciences of the United States of America. 79: 870-873. PMID 6801664 DOI: 10.1073/Pnas.79.3.870  0.306
1982 Vine DT, McGovern MM, Schuchman EH, Haskins ME, Desnick RJ. Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association Journal of Clinical Investigation. 69: 294-302. PMID 6799547 DOI: 10.1172/Jci110452  0.307
1982 Grabowski GA, Desnick RJ. Chapter 5. Prenatal Diagnosis of Inherited Metabolic Diseases: Principles, Pitfalls, and Prospects Methods in Cell Biology. 26: 95-179. PMID 6752654 DOI: 10.1016/S0091-679X(08)61365-5  0.331
1981 Anderson PM, Reddy RM, Anderson KE, Desnick RJ. Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT Journal of Clinical Investigation. 68: 1-12. PMID 7251856 DOI: 10.1172/Jci110223  0.334
1981 Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology. 31: 787-98. PMID 6454083 DOI: 10.1212/Wnl.31.7.787  0.336
1981 Desnick RJ, Grabowski GA. Advances in the Treatment of Inherited Metabolic Diseases Advances in Human Genetics. 11: 281-369. PMID 6115548 DOI: 10.1007/978-1-4615-8303-5_5  0.321
1980 Shafit-Zagardo B, Devine EA, Desnick RJ. Electrophoretic separation of neutral and acid beta-glucosidase isozymes in human tissues. Biochimica Et Biophysica Acta. 614: 459-65. PMID 6773581 DOI: 10.1016/0005-2744(80)90235-1  0.634
1979 Carlson EA, Letson RD, Ramsay NK, Desnick RJ. Factors for improved genetic counseling for retinoblastoma based on a survey of 55 families. American Journal of Ophthalmology. 87: 449-59. PMID 443309 DOI: 10.1016/0002-9394(79)90230-7  0.307
1979 Desnick RJ, Dean KJ, Grabowski G, Bishop DF, Sweeley CC. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proceedings of the National Academy of Sciences of the United States of America. 76: 5326-30. PMID 228284 DOI: 10.1073/Pnas.76.10.5326  0.332
1979 Carlson EA, Desnick RJ. Mutational mosaicism and genetic counseling in retinoblastoma. American Journal of Medical Genetics. 4: 365-81. PMID 120116 DOI: 10.1002/Ajmg.1320040408  0.358
1979 Jolly RD, Desnick RJ. Inborn errors of lysosomal catabolism - principles of heterozygote detection American Journal of Medical Genetics. 4: 293-307. PMID 117711 DOI: 10.1002/Ajmg.1320040313  0.329
1979 Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF. Alpha-L-iduronidase deficiency in a cat: A model of mucopolysaccharidosis I Pediatric Research. 13: 1294-1297. PMID 117422 DOI: 10.1203/00006450-197911000-00018  0.309
1979 Shapiro LJ, Aleck KA, Kaback MM, Itabashi H, Desnick RJ, Brand N, Stevens RL, Fluharty AL, Kihara H. Metachromatic leukodystrophy without arylsulfatase a deficiency Pediatric Research. 13: 1179-1181. PMID 41211 DOI: 10.1203/00006450-197910000-00021  0.328
1978 Johnson DL, Desnick RJ. Molecular pathology of Fabry's disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells. Biochimica Et Biophysica Acta. 538: 195-204. PMID 23178 DOI: 10.1016/0304-4165(78)90346-X  0.308
1978 Desnick RJ, Reddy RM. 520 Rapid Prenatal Diagnosis Of Fabry'S Disease Pediatric Research. 12: 450-450. DOI: 10.1203/00006450-197804001-00525  0.301
1977 Goldberg JD, Truex JH, Desnick RJ. Tay-sachs disease: An improved, fully-automated method for heterozygote identification by tear β-hexosaminidase assay Clinica Chimica Acta. 77: 43-52. PMID 872421 DOI: 10.1016/0009-8981(77)90400-4  0.32
1977 Mehta J, Tuna N, Moller JH, Desnick RJ. Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. American Heart Journal. 93: 699-705. PMID 140598 DOI: 10.1016/S0002-8703(77)80064-1  0.305
1976 Desnick RJ, Sharp HL, Grabowski GA, Brunning RD, Quie PG, Sung JH, Gorlin RJ, Ikonne JU. Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatric Research. 10: 985-96. PMID 995502 DOI: 10.1203/00006450-197612000-00008  0.314
1976 Desnick RJ, Walling LL, Anderson PM, Raman MK, Sharp HL, Ikonne JU. Mannosidosis: studies of the alpha-D-mannosidase isozymes in health and disease Advances in Experimental Medicine and Biology. 68: 277-299. PMID 937109 DOI: 10.1007/978-1-4684-7735-1_19  0.352
1976 Desnick RJ, Thorpe SR, Fiddler MB. Toward enzyme therapy for lysosomal storage diseases Physical Review. 56: 57-99. PMID 813242 DOI: 10.1152/Physrev.1976.56.1.57  0.31
1975 Thorpe SR, Fiddler MB, Desnick RJ. Enzyme therapy. V. In vivo fate of erythrocyte-entrapped beta-glucuronidase in beta-glucuronidase-deficient mice. Pediatric Research. 9: 918-923. PMID 1196710 DOI: 10.1203/00006450-197512000-00011  0.324
1975 Johnson DL, Monte MAD, Cotlier E, Desnick RJ. Fabry disease: Diagnosis by α-galactosidase activities in tears Clinica Chimica Acta. 63: 81-90. PMID 241513 DOI: 10.1016/0009-8981(75)90382-4  0.302
1974 Blieden LC, Desnick RJ, Carter JB, Krivit W, Moller JH, Sharp HL. Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism The American Journal of Cardiology. 34: 83-88. PMID 4835758 DOI: 10.1016/0002-9149(74)90097-6  0.319
1974 Thorpe SR, Fiddler MB, Desnick RJ. Enzyme therapy IV: A method for determining the In Vivo fate of bovine β-glucuronidase in β-glucuronidase deficient mice Biochemical and Biophysical Research Communications. 61: 1464-1470. PMID 4455263 DOI: 10.1016/S0006-291X(74)80448-1  0.302
1973 Desnick RJ, Krivit W, Sharp HL. In utero diagnosis of Sandhoff's disease. Biochemical and Biophysical Research Communications. 51: 20-26. PMID 4735512 DOI: 10.1016/0006-291X(73)90501-9  0.312
1973 Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. Journal of Laboratory and Clinical Medicine. 81: 157-171. DOI: 10.5555/Uri:Pii:0022214373902837  0.337
1972 Krivit W, Desnick RJ, Lee J, Moller J, Wright F, Sweeley CC, Snyder PD, Sharp HL. Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain: Sandhoff's disease (variant of Tay-Sachs disease) The American Journal of Medicine. 52: 763-770. PMID 5030173 DOI: 10.1016/0002-9343(72)90082-4  0.327
1972 Desnick SJ, Witkop CJ, Krivit W, Tries JK, Desnick RJ. Fabry's disease (ceramide trihexosidase deficiency): diagnostic confirmation by analysis of dental pulp. Archives of Oral Biology. 17: 1473. PMID 4507778 DOI: 10.1016/0003-9969(72)90107-0  0.322
1971 Krivit W, Desnick RJ, Mapes CA, Sweeley CC. 2. Enzyme replacement in Fabry's disease Pediatric Research. 5: 83-83. DOI: 10.1203/00006450-197102000-00007  0.344
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