Ron A. Wevers - Publications

Affiliations: 
Laboratory Medicine Radboud University Nijmegen Medical Centre, Nijmegen, Gelderland, Netherlands 
Area:
Genetic Endocrine and Metabolic Diseases
Website:
http://laboratorymedicine.nl/index.php?page=profile&id=97&relid=146

206 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, 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
2016 Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, ... ... Wevers RA, et al. Exome Sequencing and the Management of Neurometabolic Disorders. The New England Journal of Medicine. 374: 2246-2255. PMID 27276562 DOI: 10.1056/NEJMoa1515792  0.92
2016 van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, ... ... Wevers RA, et al. NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics. PMID 27213289 DOI: 10.1038/ng.3578  0.92
2016 Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD. Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. Molecular Genetics and Metabolism. PMID 26971250 DOI: 10.1016/j.ymgme.2016.03.001  0.92
2016 Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, ... ... Wevers RA, et al. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. American Journal of Human Genetics. PMID 26833332 DOI: 10.1016/j.ajhg.2015.12.010  0.92
2016 Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, ... ... Wevers RA, et al. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. American Journal of Human Genetics. PMID 26833330 DOI: 10.1016/j.ajhg.2015.12.011  0.92
2015 Sass JO, Vaithilingam J, Gemperle-Britschgi C, Delnooz CC, Kluijtmans LA, van de Warrenburg BP, Wevers RA. Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia. Metabolic Brain Disease. PMID 26686503 DOI: 10.1007/s11011-015-9778-6  0.92
2015 Engel J, Blanchet L, Bloemen B, van den Heuvel LP, Engelke UH, Wevers RA, Buydens LM. Regularized MANOVA (rMANOVA) in untargeted metabolomics. Analytica Chimica Acta. 899: 1-12. PMID 26547490 DOI: 10.1016/j.aca.2015.06.042  0.92
2015 Taher M, Leen WG, Wevers RA, Willemsen MA. Lactate and its many faces. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 26481417 DOI: 10.1016/j.ejpn.2015.09.008  0.92
2015 Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N. A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses. Plos One. 10: e0138622. PMID 26406883 DOI: 10.1371/journal.pone.0138622  0.92
2015 van Scherpenzeel M, Steenbergen G, Morava E, Wevers RA, Lefeber DJ. High-resolution QTOF mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. Translational Research : the Journal of Laboratory and Clinical Medicine. PMID 26307094 DOI: 10.1016/j.trsl.2015.07.005  0.92
2015 VanDuijn MM, Jacobs JF, Wevers RA, Engelke UF, Joosten I, Luider TM. Quantitative Measurement of Immunoglobulins and Free Light Chains Using Mass Spectrometry. Analytical Chemistry. 87: 8268-74. PMID 26168337 DOI: 10.1021/acs.analchem.5b01263  0.92
2015 Fuijkschot J, Seyger MM, Bastiaans DE, Wevers RA, Roeleveld N, Willemsen MA. Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial. Acta Dermato-Venereologica. PMID 26123322 DOI: 10.2340/00015555-2195  0.92
2015 Mason S, van Furth AM, Mienie LJ, Engelke UF, Wevers RA, Solomons R, Reinecke CJ. A hypothetical astrocyte-microglia lactate shuttle derived from a (1)H NMR metabolomics analysis of cerebrospinal fluid from a cohort of South African children with tuberculous meningitis. Metabolomics : Official Journal of the Metabolomic Society. 11: 822-837. PMID 26109926 DOI: 10.1007/s11306-014-0741-z  0.92
2015 Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, et al. Truncated prelamin A expression in HGPS-like patients: a transcriptional study. European Journal of Human Genetics : Ejhg. 23: 1051-61. PMID 25649378 DOI: 10.1038/ejhg.2014.239  0.92
2015 Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, ... ... Wevers RA, et al. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. Neuropediatrics. 46: 98-103. PMID 25642805 DOI: 10.1055/s-0034-1399755  0.92
2015 Wortmann SB, ZiÄ™tkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, ... ... Wevers RA, et al. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. American Journal of Human Genetics. 96: 245-57. PMID 25597510 DOI: 10.1016/j.ajhg.2014.12.013  0.92
2015 Smeets EEJW, Span PN, Van Herwaarden AE, Wevers RA, Hermus ARMM, Sweep FCGJ, Claahsen-Van Der Grinten HL. Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: Lesions with both adrenocortical and Leydig cell features Journal of Clinical Endocrinology and Metabolism. 100: E524-E530. PMID 25485724 DOI: 10.1210/jc.2014-2036  0.92
2015 Rao JU, Engelke UF, Sweep FC, Pacak K, Kusters B, Goudswaard AG, Hermus AR, Mensenkamp AR, Eisenhofer G, Qin N, Richter S, Kunst HP, Timmers HJ, Wevers RA. Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics. The Journal of Clinical Endocrinology and Metabolism. 100: E214-22. PMID 25459911 DOI: 10.1210/jc.2014-2138  0.92
2015 Riemersma M, Mandel H, Van Beusekom E, Gazzoli I, Roscioli T, Eran A, Gershoni-Baruch R, Gershoni M, Pietrokovski S, Vissers LE, Lefeber DJ, Willemsen MA, Wevers RA, Van Bokhoven H. Absence of α-and β-dystroglycan is associated with Walker-Warburg syndrome Neurology. 84: 2177-2182. DOI: 10.1212/WNL.0000000000001615  0.92
2015 Huigen MCDG, van der Graaf M, Morava E, Dassel ACM, van Steensel MAM, Seyger MMB, Wevers RA, Willemsen MA. Cerebral lipid accumulation in chanarin-dorfman syndrome Molecular Genetics and Metabolism. 114: 51-54. DOI: 10.1016/j.ymgme.2014.10.016  0.92
2015 Sjouke B, van der Stappen JWJ, Groener JEM, Pepping A, Wevers RA, Gouw A, Dikkeschei LD, Mijnhout S, Hovingh GK, Alleman MA. Hypercholesterolaemia and hepatosplenomegaly: Two manifestations of cholesteryl ester storage disease Netherlands Journal of Medicine. 73: 129-132.  0.92
2014 Stockler S, Corvera S, Lambright D, Fogarty K, Nosova E, Leonard D, Steinfeld R, Ackerley C, Shyr C, Au N, Selby K, van Allen M, Vallance H, Wevers R, Watkins D, et al. Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking. Orphanet Journal of Rare Diseases. 9: 141. PMID 25233840 DOI: 10.1186/s13023-014-0141-5  0.92
2014 Van Der Doelen RHA, Deschamps W, D'Annibale C, Peeters D, Wevers RA, Zelena D, Homberg JR, Kozicz T. Early life adversity and serotonin transporter gene variation interact at the level of the adrenal gland to affect the adult hypothalamo-pituitary-Adrenal axis Translational Psychiatry. 4. PMID 25004389 DOI: 10.1038/tp.2014.57  0.92
2014 Kroeze LI, Aslanyan MG, van Rooij A, Koorenhof-Scheele TN, Massop M, Carell T, Boezeman JB, Marie JP, Halkes CJ, de Witte T, Huls G, Suciu S, Wevers RA, van der Reijden BA, Jansen JH, et al. Characterization of acute myeloid leukemia based on levels of global hydroxymethylation. Blood. 124: 1110-8. PMID 24986689 DOI: 10.1182/blood-2013-08-518514  0.92
2014 van Berkel A, Rao JU, Kusters B, Demir T, Visser E, Mensenkamp AR, van der Laak JA, Oosterwijk E, Lenders JW, Sweep FC, Wevers RA, Hermus AR, Langenhuijsen JF, Kunst DP, Pacak K, et al. Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma. Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine. 55: 1253-9. PMID 24925884 DOI: 10.2967/jnumed.114.137034  0.92
2014 Wolthuis DFGJ, Van Asbeck E, Mohamed M, Gardeitchik T, Lim-Melia ER, Wevers RA, Morava E. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature European Journal of Paediatric Neurology. 18: 511-515. PMID 24767728 DOI: 10.1016/j.ejpn.2014.01.003  0.92
2014 Engel J, Blanchet L, Engelke UF, Wevers RA, Buydens LM. Towards the disease biomarker in an individual patient using statistical health monitoring. Plos One. 9: e92452. PMID 24691487 DOI: 10.1371/journal.pone.0092452  0.92
2014 Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, ... ... Wevers RA, et al. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain : a Journal of Neurology. 137: 1030-8. PMID 24566669 DOI: 10.1093/brain/awu019  0.92
2014 Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, ... ... Wevers RA, et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. The New England Journal of Medicine. 370: 533-42. PMID 24499211 DOI: 10.1056/NEJMoa1206605  0.92
2014 Van Asbeck E, Wolthuis DFGJ, Mohamed M, Wevers RA, Korenke CG, Gardeitchik T, Morava E. A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract American Journal of Medical Genetics, Part A. 164: 1049-1055. PMID 24459010 DOI: 10.1002/ajmg.a.36392  0.92
2014 Van De Ven S, Gardeitchik T, Kouwenberg D, Kluijtmans L, Wevers R, Morava E. Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia Journal of Inherited Metabolic Disease. 37: 383-390. PMID 24173411 DOI: 10.1007/s10545-013-9660-9  0.92
2014 Schieving JH, de Vries M, van Vugt JM, Weemaes C, van Deuren M, Nicolai J, Wevers RA, Willemsen MA. Alpha-fetoprotein, a fascinating protein and biomarker in neurology. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 18: 243-8. PMID 24120489 DOI: 10.1016/j.ejpn.2013.09.003  0.92
2014 Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, ... ... Wevers R, et al. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. European Journal of Human Genetics : Ejhg. 22: 888-95. PMID 23963297 DOI: 10.1038/ejhg.2013.154  0.92
2014 Engel J, Blanchet L, Engelke U, Wevers RA, Buydens L. Correction: Towards the disease biomarker in an individual patient using statistical health monitoring (PLoS ONE (2014) 9, 4 (e92452) DOI: 10.1371/journal.pone.0092452) Plos One. 9. DOI: 10.1371/journal.pone.0097371  0.92
2014 Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer APM, Wevers RA. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids Journal of Inherited Metabolic Disease. DOI: 10.1007/s10545-014-9759-7  0.92
2013 Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM. Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD). Frontiers in Human Neuroscience. 7: 858. PMID 24399946 DOI: 10.3389/fnhum.2013.00858  0.92
2013 Leen WG, De Wit CJ, Wevers RA, Van Engelen BG, Kamsteeg EJ, Klepper J, Verbeek MM, Willemsen MA. Child neurology: Differential diagnosis of a low CSF glucose in children and young adults Neurology. 81: e178-e181. PMID 24323444 DOI: 10.1212/01.wnl.0000437294.20817.99  0.92
2013 Navis AC, Niclou SP, Fack F, Stieber D, van Lith S, Verrijp K, Wright A, Stauber J, Tops B, Otte-Holler I, Wevers RA, van Rooij A, Pusch S, von Deimling A, Tigchelaar W, et al. Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KG. Acta Neuropathologica Communications. 1: 18. PMID 24252742 DOI: 10.1186/2051-5960-1-18  0.92
2013 Althoff J, Biesheuvel K, De Kok A, Pelt H, Ruitenbeek M, Spork G, Tange J, Wevers R. Economic feasibility of the sugar beet-to-ethylene value chain. Chemsuschem. 6: 1625-30. PMID 24039080 DOI: 10.1002/cssc.201300478  0.92
2013 Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA. Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: A systematic review Jama Neurology. 70: 1440-1444. PMID 23999624 DOI: 10.1001/jamaneurol.2013.3090  0.92
2013 Mutsaers HAM, Engelke UFH, Wilmer MJG, Wetzels JFM, Wevers RA, van den Heuvel LP, Hoenderop JG, Masereeuw R. Optimized Metabolomic Approach to Identify Uremic Solutes in Plasma of Stage 3-4 Chronic Kidney Disease Patients Plos One. 8. PMID 23936492 DOI: 10.1371/journal.pone.0071199  0.92
2013 Mohamed M, Ashikov A, Guillard M, Robben JH, Schmidt S, Van Den Heuvel B, De Brouwer APM, Gerardy-Schahn R, Deen PMT, Wevers RA, Lefeber DJ, Morava E. Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport Neurology. 81: 681-687. PMID 23873973 DOI: 10.1212/WNL.0b013e3182a08f53  0.92
2013 Rao JU, Engelke UF, Rodenburg RJ, Wevers RA, Pacak K, Eisenhofer G, Qin N, Kusters B, Goudswaard AG, Lenders JW, Hermus AR, Mensenkamp AR, Kunst HP, Sweep FC, Timmers HJ. Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 19: 3787-95. PMID 23723300 DOI: 10.1158/1078-0432.CCR-12-3922  0.92
2013 Delnooz CCS, Wevers RA, Quadri M, Clayton PT, Mills PB, Tuschl K, Steenbergen EJ, Bonifati V, Van de Warrenburg BPC. Phenotypic variability in a dystonia family with mutations in the manganese transporter gene Movement Disorders. 28: 685-686. PMID 23592301 DOI: 10.1002/mds.25390  0.92
2013 Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E. Thrombotic complications in patients with PMM2-CDG Molecular Genetics and Metabolism. 109: 107-111. PMID 23499581 DOI: 10.1016/j.ymgme.2013.02.006  0.92
2013 Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann SB, Korsch E, Adamowicz M, Al-Gazali L, Wevers RA, Horvath A, Lefeber DJ, Morava E. Perinatal and early infantile symptoms in congenital disorders of glycosylation American Journal of Medical Genetics, Part A. 161: 578-584. PMID 23401092 DOI: 10.1002/ajmg.a.35702  0.92
2013 Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, ... ... Wevers RA, et al. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. Journal of Inherited Metabolic Disease. 36: 913-21. PMID 23355087 DOI: 10.1007/s10545-012-9579-6  0.92
2013 Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ. A novel mutation in COQ2 leading to fatal infantile multisystem disease. Journal of the Neurological Sciences. 326: 24-8. PMID 23343605 DOI: 10.1016/j.jns.2013.01.004  0.92
2013 Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. Journal of Inherited Metabolic Disease. 36: 923-8. PMID 23296368 DOI: 10.1007/s10545-012-9580-0  0.92
2013 Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Symptomatic lipid storage in carriers for the PNPLA2 gene. European Journal of Human Genetics : Ejhg. 21: 807-15. PMID 23232698 DOI: 10.1038/ejhg.2012.256  0.92
2013 Zulfiqar M, Lin DD, Van der Graaf M, Barker PB, Fahrner JA, Marie S, Morava E, De Boer L, Willemsen MA, Vining E, Horská A, Engelke U, Wevers RA, Maegawa GH. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. Journal of Magnetic Resonance Imaging : Jmri. 37: 974-80. PMID 23055421 DOI: 10.1002/jmri.23852  0.92
2013 Kapusta L, Zucker N, Frenckel G, Medalion B, Gal TB, Birk E, Mandel H, Nasser N, Morgenstern S, Zuckermann A, Lefeber DJ, De Brouwer A, Wevers RA, Lorber A, Morava E. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG) Heart Failure Reviews. 18: 187-196. PMID 22327749 DOI: 10.1007/s10741-012-9302-6  0.92
2013 Smuts I, van der Westhuizen FH, Louw R, Mienie LJ, Engelke UFH, Wevers RA, Mason S, Koekemoer G, Reinecke CJ. Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach Metabolomics. 9: 379-391. DOI: 10.1007/s11306-012-0455-z  0.92
2012 Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, ... ... Wevers RA, et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. American Journal of Human Genetics. 91: 1073-81. PMID 23176823 DOI: 10.1016/j.ajhg.2012.10.017  0.92
2012 van Swelm RPL, Laarakkers CMM, van der Kuur EC, Morava-Kozicz E, Wevers RA, Augustijn KD, Touw DJ, Sandel MH, Masereeuw R, Russel FGM. Identification of Novel Translational Urinary Biomarkers for Acetaminophen-Induced Acute Liver Injury Using Proteomic Profiling in Mice Plos One. 7. PMID 23166697 DOI: 10.1371/journal.pone.0049524  0.92
2012 Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, ... ... Wevers RA, et al. DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy Annals of Neurology. 72: 550-558. PMID 23109149 DOI: 10.1002/ana.23632  0.92
2012 Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, ... Wevers RA, et al. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 130: e1034-9. PMID 22966035 DOI: 10.1542/peds.2011-2711  0.92
2012 Leen WG, Willemsen MA, Wevers RA, Verbeek MM. Cerebrospinal fluid glucose and lactate: Age-specific reference values and implications for clinical practice Plos One. 7. PMID 22880096 DOI: 10.1371/journal.pone.0042745  0.92
2012 Fuijkschot J, Theelen T, Seyger MMB, Van Der Graaf M, De Groot IJM, Wevers RA, Wanders RJA, Waterham HR, Willemsen MAAP. Sjögren-Larsson syndrome in clinical practice Journal of Inherited Metabolic Disease. 35: 955-962. PMID 22833178 DOI: 10.1007/s10545-012-9518-6  0.92
2012 Hollak CEM, de Sonnaville ESV, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JMFG, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, et al. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients Molecular Genetics and Metabolism. 107: 526-533. PMID 22818240 DOI: 10.1016/j.ymgme.2012.06.015  0.92
2012 Bok LA, Halbertsma FJ, Houterman S, Wevers RA, Vreeswijk C, Jakobs C, Struys E, Van Der Hoeven JH, Sival DA, Willemsen MA. Long-term outcome in pyridoxine-dependent epilepsy. Developmental Medicine and Child Neurology. 54: 849-54. PMID 22804844 DOI: 10.1111/j.1469-8749.2012.04347.x  0.92
2012 Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? European Journal of Medical Genetics. 55: 552-6. PMID 22781753 DOI: 10.1016/j.ejmg.2012.06.002  0.92
2012 Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, ... ... Wevers RA, et al. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics. 131: 1761-73. PMID 22773132 DOI: 10.1007/s00439-012-1197-8  0.92
2012 Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, ... ... Wevers RA, et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nature Genetics. 44: 797-802. PMID 22683713 DOI: 10.1038/ng.2325  0.92
2012 Gramer G, Wolf NI, Vater D, Bast T, Santer R, Kamsteeg EJ, Wevers RA, Ebinger F. Glucose transporter-1 (GLUT1) deficiency syndrome: Diagnosis and treatment in late childhood Neuropediatrics. 43: 168-171. PMID 22622956 DOI: 10.1055/s-0032-1315433  0.92
2012 Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-cegielska J, Paprocka J, Jamroz E, Van spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den heuvel L, Thiel C, ... Wevers RA, et al. Gene identification in the congenital disorders of glycosylation type i by whole-exome sequencing Human Molecular Genetics. 21: 4151-4161. PMID 22492991 DOI: 10.1093/hmg/dds123  0.92
2012 Mohamed M, Theodore M, Der Grinten HCv, Van Herwaarden AE, Huijben K, Van Dongen L, Kouwenberg D, Lefeber DJ, Wevers RA, Morava E. Thyroid function in PMM2-CDG: Diagnostic approach and proposed management Molecular Genetics and Metabolism. 105: 681-683. PMID 22386715 DOI: 10.1016/j.ymgme.2012.02.001  0.92
2012 Tuschl K, Clayton PT, Gospe SM, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, ... Wevers RA, et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. American Journal of Human Genetics. 90: 457-66. PMID 22341972 DOI: 10.1016/j.ajhg.2012.01.018  0.92
2012 Binkhorst M, Wortmann SB, Funke S, Kozicz T, Wevers RA, Morava E. Glycosylation defects underlying fetal alcohol spectrum disorder: A novel pathogenetic model Journal of Inherited Metabolic Disease. 35: 399-405. PMID 22134542 DOI: 10.1007/s10545-011-9425-2  0.92
2012 Wortmann SB, Kluijtmans LA, Engelke UFH, Wevers RA, Morava E. The 3-methylglutaconic acidurias: What's new? Journal of Inherited Metabolic Disease. 35: 13-22. PMID 20882351 DOI: 10.1007/s10545-010-9210-7  0.92
2012 Walker V, Wevers RA. Trimethylaminuria and dimethylglycine dehydrogenase deficiency Inborn Metabolic Diseases: Diagnosis and Treatment. 431-435. DOI: 10.1007/978-3-642-15720-2_31  0.92
2011 Lefeber DJ, de Brouwer APM, Morava E, Riemersma M, Schuurs-Hoeijmakers JHM, Absmanner B, Verrijp K, van den Akker WMR, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, ... ... Wevers RA, et al. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation Plos Genetics. 7. PMID 22242004 DOI: 10.1371/journal.pgen.1002427  0.92
2011 Holleboom AG, Karlsson H, Lin RS, Beres TM, Sierts JA, Herman DS, Stroes ES, Aerts JM, Kastelein JJ, Motazacker MM, Dallinga-Thie GM, Levels JH, Zwinderman AH, Seidman JG, Seidman CE, ... ... Wevers RA, et al. Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metabolism. 14: 811-8. PMID 22152306 DOI: 10.1016/j.cmet.2011.11.005  0.92
2011 Guillard M, Morava E, De Ruijter J, Roscioli T, Penzien J, Van Den Heuvel L, Willemsen MA, De Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement Journal of Pediatrics. 159: 1041-1043.e2. PMID 21920538 DOI: 10.1016/j.jpeds.2011.08.007  0.92
2011 Achouitar S, Goldstein JL, Mohamed M, Austin S, Boyette K, Blanpain FM, Rehder CW, Kishnani PS, Wortmann SB, den Heijer M, Lefeber DJ, Wevers RA, Bali DS, Morava E. Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Molecular Genetics and Metabolism. 104: 691-4. PMID 21911307 DOI: 10.1016/j.ymgme.2011.08.021  0.92
2011 Mencarelli MA, Tassini M, Pollazzon M, Vivi A, Calderisi M, Falco M, Fichera M, Monti L, Buoni S, Mari F, Engelke U, Wevers RA, Hayek J, Renieri A. Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability American Journal of Medical Genetics, Part A. 155: 2446-2452. PMID 21910234 DOI: 10.1002/ajmg.a.34208  0.92
2011 Kouwenberg D, Gardeitchik T, Wevers RA, Häberle J, Morava E. Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations American Journal of Medical Genetics, Part A. 155: 2331-2332. PMID 21834030 DOI: 10.1002/ajmg.a.34154  0.92
2011 Mohamed M, Cantagrel V, Al-Gazali L, Wevers RA, Lefeber DJ, Morava E. Normal glycosylation screening does not rule out SRD5A3-CDG European Journal of Human Genetics. 19: 1019. PMID 21750573 DOI: 10.1038/ejhg.2010.260  0.92
2011 Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Õunap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grünewald S, ... ... Wevers RA, et al. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. Journal of Inherited Metabolic Disease. 34: 923-7. PMID 21541726 DOI: 10.1007/s10545-011-9325-5  0.92
2011 Van Den Broek L, Backx APCM, Coolen H, Wijburg FA, Wevers R, Morava E, Neeleman C. Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I Pediatrics. 127: e1343-e1346. PMID 21464194 DOI: 10.1542/peds.2009-2047  0.92
2011 Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa syndromes Journal of Inherited Metabolic Disease. 34: 907-916. PMID 21431621 DOI: 10.1007/s10545-011-9305-9  0.92
2011 Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van Den Heuvel LPWJ, Morava E, Zeman J, Wevers RA, Lefeber DJ. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type i Journal of Inherited Metabolic Disease. 34: 901-906. PMID 21431619 DOI: 10.1007/s10545-011-9311-y  0.92
2011 Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, ... ... Wevers RA, et al. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern Biochimica Et Biophysica Acta - Molecular Basis of Disease. 1812: 691-698. PMID 21362473 DOI: 10.1016/j.bbadis.2011.02.011  0.92
2011 Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, et al. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. American Journal of Human Genetics. 88: 216-25. PMID 21310276 DOI: 10.1016/j.ajhg.2011.01.004  0.92
2011 Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L. Cutis laxa and fatal pulmonary hypertension: A newly recognized syndrome? Clinical Dysmorphology. 20: 77-81. PMID 21285876 DOI: 10.1097/MCD.0b013e3283439676  0.92
2011 Guillard M, Morava E, Van Delft FL, Hague R, Körner C, Adamowicz M, Wevers RA, Lefeber DJ. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II Clinical Chemistry. 57: 593-602. PMID 21273509 DOI: 10.1373/clinchem.2010.153635  0.92
2011 Morava E, Kühnisch J, Drijvers JM, Robben JH, Cremers C, Van Setten P, Branten A, Stumpp S, De Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-Van Der Grinten HL, O'Neill CW, Willemsen MA, ... ... Wevers RA, et al. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family Journal of Clinical Endocrinology and Metabolism. 96: E189-E198. PMID 20943778 DOI: 10.1210/jc.2010-1539  0.92
2011 Morava E, Lefeber DJ, Wevers RA. Protein glysosylation and congenital disorders of glycosylation Protein Reviews. 13: 97-117. DOI: 10.1007/978-1-4419-6382-6-5  0.92
2010 Nanayakkara PW, Meijboom M, Kramer MH, Wevers RA, Jakobs C. What have we here? A man or a fish? The Lancet. 376: 1710. PMID 21075259 DOI: 10.1016/S0140-6736(10)61151-8  0.92
2010 Wallon D, Guyant-Maréchal L, Laquerrière A, Wevers RA, Martinaud O, Kluijtmans LAJ, Yntema HG, Saugier-Veber P, Hannequin D. Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis Clinical Neuropathology. 29: 361-364. PMID 21073839  0.92
2010 Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJG, Wevers RA, Van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA. Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations Annals of Neurology. 68: 876-887. PMID 21061399 DOI: 10.1002/ana.22092  0.92
2010 Albrecht B, De Brouwer AP, Lefeber DJ, Cremer K, Hausser I, Rossen N, Wortmann SB, Wevers RA, Kornak U, Morava E. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking American Journal of Medical Genetics, Part A. 152: 2916-2918. PMID 20954239 DOI: 10.1002/ajmg.a.33712  0.92
2010 Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 75: 1079-83. PMID 20855850 DOI: 10.1212/WNL.0b013e3181f39a8a  0.92
2010 Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain : a Journal of Neurology. 133: 3210-20. PMID 20852264 DOI: 10.1093/brain/awq261  0.92
2010 Wassenberg T, Willemsen MAAP, Geurtz PBH, Lammens M, Verrijp K, Wilmer M, Lee WT, Wevers RA, Verbeek MM. Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: The unsolved paradox Molecular Genetics and Metabolism. 101: 349-356. PMID 20832343 DOI: 10.1016/j.ymgme.2010.08.003  0.92
2010 Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, ... ... Wevers RA, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17. PMID 20637498 DOI: 10.1016/j.cell.2010.06.001  0.92
2010 Engelke UFH, Zijlstra FSM, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LAJ, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MMC, Jakobs C, Morava É, Wevers RA. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency Biochimica Et Biophysica Acta - Molecular Basis of Disease. 1802: 1028-1035. PMID 20600873 DOI: 10.1016/j.bbadis.2010.06.007  0.92
2010 Drijvers JM, Lefeber DJ, de Munnik SA, Pfundt R, van de Leeuw N, Marcelis C, Thiel C, Koerner C, Wevers RA, Morava E. Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations Clinical Genetics. 77: 507-509. PMID 20447155 DOI: 10.1111/j.1399-0004.2009.01349.x  0.92
2010 Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, ... ... Wevers RA, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain : a Journal of Neurology. 133: 1810-22. PMID 20430833 DOI: 10.1093/brain/awq087  0.92
2010 Kolwijck E, Wevers RA, Engelke UF, Woudenberg J, Bulten J, Blom HJ, Massuger LFAG. Ovarian cyst fluid of serous ovarian tumors contains large quantities of the brain amino acid N-acetylaspartate Plos One. 5. PMID 20421982  0.92
2010 Kolwijck E, Lybol C, Bulten J, Vollebergh JHA, Wevers RA, Massuger LFAG. Prevalence of cysts in epithelial ovarian cancer European Journal of Obstetrics Gynecology and Reproductive Biology. 151: 96-100. PMID 20303211 DOI: 10.1016/j.ejogrb.2010.02.044  0.92
2010 Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJG, De Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Ezgü FS, Tokatli A, Czartoryska B, Bosschaart AN, Van Den Bos-Terpstra F, Puissant H, ... ... Wevers RA, et al. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations Human Mutation. 31: E1348-E1360. PMID 20232353 DOI: 10.1002/humu.21234  0.92
2010 Zannolli R, Buoni S, Tassini M, De Nicola A, Betti G, De Felice C, Orsi A, Varetti MC, Ferrara F, Messina M, Giannini C, Mohn A, Chiarelli F, Liberati M, Strambi M, ... ... Wevers RA, et al. Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction. Nmr in Biomedicine. 23: 353-8. PMID 20187168 DOI: 10.1002/nbm.1468  0.92
2010 Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, Van Engelen BG, Lefeber DJ. Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy Clinical Neuropathology. 29: 71-77. PMID 20175955  0.92
2010 Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gärtner J. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. Nmr in Biomedicine. 23: 441-5. PMID 20175147 DOI: 10.1002/nbm.1480  0.92
2010 Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain : a Journal of Neurology. 133: 655-70. PMID 20129935 DOI: 10.1093/brain/awp336  0.92
2010 Mochel F, Engelke UF, Barritault J, Yang B, McNeill NH, Thompson JN, Vanderver A, Wolf NI, Willemsen MA, Verheijen FW, Seguin F, Wevers RA, Schiffmann R. Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases. Neurology. 74: 302-5. PMID 20101035 DOI: 10.1212/WNL.0b013e3181cbcdc4  0.92
2010 Vogtländer NP, van der Vlag J, Bakker MA, Dijkman HB, Wevers RA, Campbell KP, Wetzels JF, Berden JH. Expression of sialidase and dystroglycan in human glomerular diseases. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 25: 478-84. PMID 19755471 DOI: 10.1093/ndt/gfp465  0.92
2010 Tassini M, Zannolli R, Buoni S, Engelke U, Vivi A, Valensin G, Salomons GS, De Nicola A, Strambi M, Monti L, Morava E, Wevers RA, Hayek J. [1 H] Magnetic resonance spectroscopy of urine: Diagnosis of a guanidinoacetate methyl transferase deficiency case Journal of Child Neurology. 25: 98-101. PMID 19461121 DOI: 10.1177/0883073809336120  0.92
2010 Delnooz CCS, Lefeber DJ, Langemeijer SMC, Hoffjan S, Dekomien G, Zwarts MJ, Van Engelen BGM, Wevers RA, Schelhaas HJ, Van De Warrenburg BPC. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype Journal of Neurology, Neurosurgery and Psychiatry. 81: 968-972. DOI: 10.1136/jnnp.2009.177089  0.92
2010 Morava E, Guillard M, Lefeber DJ, Wevers RA. Reply to Leao-Teles et al European Journal of Human Genetics. 18: 526. DOI: 10.1038/ejhg.2009.219  0.92
2010 Engelke U, Goudswaard A, Wevers RA, Morava É. Nuclear magnetic resonance analysis and genetic metabolic disease Methodologies For Metabolomics: Experimental Strategies and Techniques. 299-316. DOI: 10.1017/CBO9780511996634.016  0.92
2010 Lutz NW, Sweedler JV, Wevers RA. Methodologies for metabolomics: Experimental strategies and techniques Methodologies For Metabolomics: Experimental Strategies and Techniques. 1-627. DOI: 10.1017/CBO9780511996634  0.92
2010 Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, Halley DJ, Wijburg FA. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype Journal of Inherited Metabolic Disease. 33: 759-767. DOI: 10.1007/s10545-010-9199-y  0.92
2009 Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. Journal of Inherited Metabolic Disease. 32: S307-11. PMID 19898952 DOI: 10.1007/s10545-009-1261-2  0.92
2009 Coen M, Wevers RA, Lindon JC, Blom HJ. High-resolution 1H NMR spectroscopic investigation of a chick embryo model of neural tube development. Magnetic Resonance in Chemistry : Mrc. 47: S62-7. PMID 19862797 DOI: 10.1002/mrc.2534  0.92
2009 Morava E, Steuerwald U, Carrozzo R, Kluijtmans LA, Joensen F, Santer R, Dionisi-Vici C, Wevers RA. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion. 9: 438-42. PMID 19666145 DOI: 10.1016/j.mito.2009.08.003  0.92
2009 Nijland R, Hartog FE, Wevers RA, Wanders RJ, Willemsen WN. Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients. Journal of Pediatric and Adolescent Gynecology. 22: 229-31. PMID 19646668 DOI: 10.1016/j.jpag.2008.10.004  0.92
2009 Kolwijck E, Engelke UF, van der Graaf M, Heerschap A, Blom HJ, Hadfoune M, Buurman WA, Massuger LF, Wevers RA. N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors. Nmr in Biomedicine. 22: 1093-9. PMID 19593761 DOI: 10.1002/nbm.1417  0.92
2009 Guillard M, Gloerich J, Wessels HJ, Morava E, Wevers RA, Lefeber DJ. Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry. Carbohydrate Research. 344: 1550-7. PMID 19577739 DOI: 10.1016/j.carres.2009.06.010  0.92
2009 Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, ... ... Wevers RA, et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. American Journal of Human Genetics. 85: 76-86. PMID 19576565 DOI: 10.1016/j.ajhg.2009.06.006  0.92
2009 Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, et al. Free sialic acid storage disease without sialuria. Annals of Neurology. 65: 753-7. PMID 19557856 DOI: 10.1002/ana.21624  0.92
2009 Verrips A, Wevers RA, van Spronsen FJ, Sikkens H. [The right medicine for cerebrotendinous xanthomatosis]. Nederlands Tijdschrift Voor Geneeskunde. 153: 726-7. PMID 19452779  0.92
2009 Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. European Journal of Human Genetics : Ejhg. 17: 1099-110. PMID 19401719 DOI: 10.1038/ejhg.2009.22  0.92
2009 Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, ... ... Wevers RA, et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics. 18: 2149-65. PMID 19321599 DOI: 10.1093/hmg/ddp148  0.92
2009 Engelke UF, Tassini M, Hayek J, de Vries M, Bilos A, Vivi A, Valensin G, Buoni S, Zannolli R, Brussel W, Kremer B, Salomons GS, Veendrick-Meekes MJ, Kluijtmans LA, Morava E, ... Wevers RA, et al. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. Nmr in Biomedicine. 22: 538-44. PMID 19288536 DOI: 10.1002/nbm.1367  0.92
2009 Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica Et Biophysica Acta. 1792: 903-14. PMID 19171192 DOI: 10.1016/j.bbadis.2008.12.009  0.92
2009 Jamroz E, Adamek D, Paprocka J, Adamowicz M, Marszał E, Wevers RA. CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions. Journal of Child Neurology. 24: 13-8. PMID 19168813 DOI: 10.1177/0883073808321041  0.92
2009 Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, ... ... Wevers RA, et al. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain : a Journal of Neurology. 132: 801-9. PMID 19153153 DOI: 10.1093/brain/awn355  0.92
2009 Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E. Decreased bone density and treatment in patients with autosomal recessive cutis laxa Acta Paediatrica, International Journal of Paediatrics. 98: 490-494. PMID 19055655 DOI: 10.1111/j.1651-2227.2008.01145.x  0.92
2009 Morava E, Wosik HN, Sykut-Cegielska J, Adamowicz M, Guillard M, Wevers RA, Lefeber DJ, Cruysberg JRM. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I British Journal of Ophthalmology. 93: 350-354. PMID 19019927 DOI: 10.1136/bjo.2008.145359  0.92
2009 Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain : a Journal of Neurology. 132: 136-46. PMID 19015156 DOI: 10.1093/brain/awn296  0.92
2008 Verbeek MM, Blom AM, Wevers RA, Lagerwerf AJ, van de Geer J, Willemsen MAAP. Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations Molecular Genetics and Metabolism. 95: 127-132. PMID 18722797 DOI: 10.1016/j.ymgme.2008.07.004  0.92
2008 Truin G, Guillard M, Lefeber DJ, Sykut-Cegielska J, Adamowicz M, Hoppenreijs E, Sengers RC, Wevers RA, Morava E. Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Molecular Genetics and Metabolism. 94: 481-4. PMID 18571450 DOI: 10.1016/j.ymgme.2008.05.005  0.92
2008 Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Two Greek siblings with sepiapterin reductase deficiency Molecular Genetics and Metabolism. 94: 403-409. PMID 18502672 DOI: 10.1016/j.ymgme.2008.04.003  0.92
2008 Morava É, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps Journal of Inherited Metabolic Disease. 31: 450-456. PMID 18500572 DOI: 10.1007/s10545-008-0822-0  0.92
2008 Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Elisha MB, Wevers RA, Falik-Zaccai TC. PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism Molecular Genetics and Metabolism. 94: 431-434. PMID 18485777 DOI: 10.1016/j.ymgme.2008.04.008  0.92
2008 Ørngreen MC, Schelhaas HJ, Jeppesen TD, Akman HO, Wevers RA, Andersen ST, Ter Laak HJ, Van Diggelen OP, Dimauro S, Vissing J. Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology. 70: 1876-1882. PMID 18401027 DOI: 10.1212/01.wnl.0000289190.66955.67  0.92
2008 Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? European Journal of Human Genetics : Ejhg. 16: 875-9. PMID 18301443 DOI: 10.1038/ejhg.2008.34  0.92
2008 Wamelink MMC, Struys EA, Jansen EEW, Levtchenko EN, Zijlstra FSM, Engelke U, Blom HJ, Jakobs C, Wevers RA. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: Elucidation of the CARKL gene Human Mutation. 29: 532-536. PMID 18186520 DOI: 10.1002/humu.20685  0.92
2008 Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Molecular Genetics and Metabolism. 93: 104-11. PMID 18024218 DOI: 10.1016/j.ymgme.2007.09.011  0.92
2008 Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation European Journal of Human Genetics. 16: 28-35. PMID 17971833 DOI: 10.1038/sj.ejhg.5201947  0.92
2008 Engelke UFH, Sass JO, van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA. NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism Nmr in Biomedicine. 21: 138-147. PMID 17516490 DOI: 10.1002/nbm.1170  0.92
2007 de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, et al. Arts syndrome is caused by loss-of-function mutations in PRPS1. American Journal of Human Genetics. 81: 507-18. PMID 17701896 DOI: 10.1086/520706  0.92
2007 Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. Annals of Neurology. 62: 422-6. PMID 17696123 DOI: 10.1002/ana.21199  0.92
2007 Vermeer S, Kremer HPH, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NAVM, Morava E, Lefeber DJ. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening Journal of Neurology. 254: 1356-1358. PMID 17694350 DOI: 10.1007/s00415-007-0546-3  0.92
2007 Adamowicz M, Płoski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E. Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls Journal of Inherited Metabolic Disease. 30: 407. PMID 17457694 DOI: 10.1007/s10545-007-0569-z  0.92
2007 Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. European Journal of Human Genetics : Ejhg. 15: 638-45. PMID 17356545 DOI: 10.1038/sj.ejhg.5201813  0.92
2007 Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LAJ, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, ... ... Wevers RA, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness Brain. 130: 862-874. PMID 17301081 DOI: 10.1093/brain/awl389  0.92
2007 Gloerich J, Wevers RA, Smeitink JAM, Van Engelen BG, Van Den Heuvel LP. Proteomics approaches to study genetic and metabolic disorders Journal of Proteome Research. 6: 506-512. PMID 17269707 DOI: 10.1021/pr060487w  0.92
2007 Wijnhoven TJM, Lensen JPM, Wismans RGP, Lamrani M, Monnens LAH, Wevers RA, Rops ALWMM, Van Der Vlag J, Berden JHM, Van Den Heuvel LPWJ, Van Kuppevelt TH. In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuria Journal of the American Society of Nephrology. 18: 823-832. PMID 17251387 DOI: 10.1681/ASN.2006070692  0.92
2007 Verbeek MM, Geurtz PBH, Willemsen MAAP, Wevers RA. Aromatic l-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes Molecular Genetics and Metabolism. 90: 363-369. PMID 17240182 DOI: 10.1016/j.ymgme.2006.12.001  0.92
2007 Wopereis S, Grünewald S, Huijben KM, Morava E, Mollicone R, van Engelen BG, Lefeber DJ, Wevers RA. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clinical Chemistry. 53: 180-7. PMID 17170056 DOI: 10.1373/clinchem.2006.073940  0.92
2007 van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. Journal of Medical Genetics. 44: 277-80. PMID 17158594 DOI: 10.1136/jmg.2006.044735  0.92
2007 Engelke UFH, Oostendorp M, Wevers RA. NMR Spectroscopy of Body Fluids as a Metabolomics Approach to Inborn Errors of Metabolism The Handbook of Metabonomics and Metabolomics. 375-412. DOI: 10.1016/B978-044452841-4/50015-1  0.92
2006 Willemsen MAAP, Engelke UFH, Van Der Graaf M, Wevers RA. Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid Neuropediatrics. 37: 312-314. PMID 17236113 DOI: 10.1055/s-2006-955968  0.92
2006 Van Kuilenburg ABP, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NGGM, Wevers RA, Rutsch F, Van Gennip AH. Genetic analysis of the first four patients with β-ureidopropionase deficiency Nucleosides, Nucleotides and Nucleic Acids. 25: 1093-1098. PMID 17065070 DOI: 10.1080/15257770600956870  0.92
2006 Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, ... ... Wevers RA, et al. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). American Journal of Human Genetics. 79: 807-19. PMID 17033958 DOI: 10.1086/508294  0.92
2006 Tészás A, Pfund Z, Morava E, Kosztolányi G, Sistermans E, Wevers RA, Kellermayer R. Presenile cataract: Consider cholestanol Archives of Ophthalmology. 124: 1490-1492. PMID 17030721 DOI: 10.1001/archopht.124.10.1490  0.92
2006 Burlina AP, Schmitt B, Engelke U, Wevers RA, Burlina AB, Boltshauser E. Hypoacetylaspartia: clinical and biochemical follow-up of a patient Advances in Experimental Medicine and Biology.. 576: 283-287; discussion . PMID 16802720 DOI: 10.1007/0-387-30172-0_20  0.92
2006 Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochimica Et Biophysica Acta. 1762: 598-607. PMID 16769205 DOI: 10.1016/j.bbadis.2006.03.009  0.92
2006 Oostendorp M, Engelke UFH, Willemsen MAAP, Wevers RA. Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy Clinical Chemistry. 52: 1395-1405. PMID 16709621 DOI: 10.1373/clinchem.2006.069112  0.92
2006 Kooper AJA, Janssens PMW, de Groot ANJA, Liebrand-van Sambeek MLF, van den Berg CJMG, Tan-Sindhunata GB, van den Berg PP, Bijlsma EK, Smits APT, Wevers RA. Lysosomal storage diseases in non-immune hydrops fetalis pregnancies Clinica Chimica Acta. 371: 176-182. PMID 16674934 DOI: 10.1016/j.cca.2006.03.007  0.92
2006 Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA. NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. Nmr in Biomedicine. 19: 271-8. PMID 16541463 DOI: 10.1002/nbm.1018  0.92
2006 Assmann B, Göhlich C, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg ABP, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Clinical findings and a therapeutic trial in the first patient with β-ureidopropionase deficiency Neuropediatrics. 37: 20-25. PMID 16541364 DOI: 10.1055/s-2006-923933  0.92
2006 Wopereis S, Lefeber DJ, Morava E, Wevers RA. Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clinical Chemistry. 52: 574-600. PMID 16497938 DOI: 10.1373/clinchem.2005.063040  0.92
2006 Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. European Journal of Ophthalmology. 16: 190-4. PMID 16496270  0.92
2006 Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism American Journal of Human Genetics. 78: 401-409. PMID 16465618 DOI: 10.1086/500563  0.92
2006 Nicolai J, Van Kranen-Mastenbroek VHJM, Wevers RA, Hurkx WAPT, Vles JSH. Folinic acid-responsive seizures initially responsive to pyridoxine Pediatric Neurology. 34: 164-167. PMID 16458834 DOI: 10.1016/j.pediatrneurol.2005.08.019  0.92
2006 Albahri Z, Marklová E, Dedek P, Hojdíková H, Fiedler Z, Lefeber D, Wevers RA, Morava E, Wopereis S. CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans. European Journal of Pediatrics. 165: 203-4. PMID 16416133 DOI: 10.1007/s00431-005-0047-2  0.92
2006 Hjermind LE, Johannsen LG, Blau N, Wevers RA, Lucking CB, Hertz JM, Friberg L, Regeur L, Nielsen JE, Sørensen SA. Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? Movement Disorders : Official Journal of the Movement Disorder Society. 21: 679-82. PMID 16267845 DOI: 10.1002/mds.20773  0.92
2006 Jaeken J, Jakobs C, Clayton PT, Wevers RA. Disorders of neurotransmission Inborn Metabolic Diseases: Diagnosis and Treatment. 359-372. DOI: 10.1007/978-3-540-28785-8_29  0.92
2005 Ruijter GJG, Boer M, Weykamp CW, de Vries R, van den Berg I, Janssens-Puister J, Niezen-Koning K, Wevers RA, Poorthuis BJHM, Diggelen OP. External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study Journal of Inherited Metabolic Disease. 28: 979-990. PMID 16435191 DOI: 10.1007/s10545-005-0201-z  0.92
2005 Farhoud MH, Wessels HJCT, Wevers RA, Van Engelen BG, Van Den Heuvel LP, Smeitink JA. Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: Proof-of-principle Journal of Proteome Research. 4: 2364-2368. PMID 16335987 DOI: 10.1021/pr050231a  0.92
2005 Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W. Aminoacylase I deficiency: A novel inborn error of metabolism Biochemical and Biophysical Research Communications. 338: 1322-1326. PMID 16274666 DOI: 10.1016/j.bbrc.2005.10.126  0.92
2005 Willemsen MAAP, Mavinkurve-Groothuis AMC, Wevers RA, Rotteveel JJ, Jakobs C. Pipecolic acid: A diagnostic marker in pyridoxine-dependent epilepsy [1] Annals of Neurology. 58: 653. PMID 16178031 DOI: 10.1002/ana.20610  0.92
2005 Spaapen LJ, Bakker JA, van der Meer SB, Sijstermans HJ, Steet RA, Wevers RA, Jaeken J. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder. Journal of Inherited Metabolic Disease. 28: 707-14. PMID 16151902 DOI: 10.1007/s10545-005-0015-z  0.92
2005 Jorens PG, Parizel PM, Demey HE, Smets K, Jadoul K, Verbeek MM, Wevers RA, Cras P. Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge. Diagnosis with diffusion-weighted MRI leading to treatment with corticosteroids. Neuroradiology. 47: 758-64. PMID 16151706 DOI: 10.1007/s00234-005-1423-3  0.92
2005 Jacobs JFM, Willemsen MAAP, Groot-Loonen JJ, Wevers RA, Hoogerbrugge PM. Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease [5] Bone Marrow Transplantation. 36: 925-926. PMID 16151419 DOI: 10.1038/sj.bmt.1705155  0.92
2005 Wopereis S, Morava E, Grünewald S, Adamowicz M, Huijben KM, Lefeber DJ, Wevers RA. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. Glycobiology. 15: 1312-9. PMID 16037491 DOI: 10.1093/glycob/cwj017  0.92
2005 Farhoud MH, Wessels HJCT, Steenbakkers PJM, Mattijssen S, Wevers RA, van Engelen BG, Jetten MSM, Smeitink JA, van den Heuvel LP, Keltjens JT. Protein complexes in the archaeon methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry Molecular and Cellular Proteomics. 4: 1653-1663. PMID 16037073 DOI: 10.1074/mcp.M500171-MCP200  0.92
2005 Voermans NC, Lammens M, Wevers RA, Hermus AR, Van Engelen BG. Statin-disclosed acid maltase deficiency Journal of Internal Medicine. 258: 196-197. PMID 16018797 DOI: 10.1111/j.1365-2796.2005.01515.x  0.92
2005 Engelke UFH, Tangerman A, Willemsen MAAP, Moskau D, Loss S, Mudd SH, Wevers RA. Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional 1H and two-dimensional 1H-13C NMR Nmr in Biomedicine. 18: 331-336. PMID 15996001 DOI: 10.1002/nbm.966  0.92
2005 Wopereis S, Morava E, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochimica Et Biophysica Acta. 1741: 156-64. PMID 15955459 DOI: 10.1016/j.bbadis.2004.11.009  0.92
2005 Wevers RA, Engelke UF. The magician from Transsylvania: On the use of proton NMR spectroscopy in the clinical chemistry laboratory Nederlands Tijdschrift Voor Klinische Chemie En Laboratoriumgeneeskunde. 30: 272-275.  0.92
2005 Willemsen MAAP, Wevers RA, Vebeek MM, Ramaekers VT, Blau N. Cerebral folate deficiency syndrome [6] (multiple letters) New England Journal of Medicine. 353: 740.  0.92
2004 Schiller A, Wevers RA, Steenbergen GC, Blau N, Jung HH. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology. 63: 1524-6. PMID 15505183  0.92
2004 Deinum J, Van Den Meiracker AH, Boomsma F, Van Ittersum FJ, Wevers RA, Lenders JWM. From gene to disease; dopamine-β-hydroxylase deficiency and orthostatic hypotension | Van gen naar ziekte; dopamine-β-hydroxylasedeficiëntie en orthostatische hypotensie Nederlands Tijdschrift Voor Geneeskunde. 148: 1771-1775. PMID 15495941  0.92
2004 van Kuilenburg ABP, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NGGM, van Cruchten A, Stroomer AEM, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, ... ... Wevers RA, et al. β-Ureidopropionase deficiency: An inborn error of pyrimidine degradation associated with neurological abnormalities Human Molecular Genetics. 13: 2793-2801. PMID 15385443 DOI: 10.1093/hmg/ddh303  0.92
2004 Boltshauser E, Schmitt B, Wevers RA, Engelke U, Burlina AB, Burlina AP. Follow-up of a child with hypoacetylaspartia Neuropediatrics. 35: 255-258. PMID 15328569 DOI: 10.1055/s-2004-821036  0.92
2004 Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D. Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency Journal of Inherited Metabolic Disease. 27: 291-293. PMID 15243989 DOI: 10.1023/B:BOLI.0000028842.15981.6e  0.92
2004 Timmers HJLM, Deinum J, Wevers RA, Lenders JWM. Congenital dopamine-β-hydroxylase deficiency in humans Annals of the New York Academy of Sciences. 1018: 520-523. PMID 15240410 DOI: 10.1196/annals.1296.064  0.92
2004 Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) Journal of Medical Genetics. 41: 550-556. PMID 15235028  0.92
2004 Krapels IP, Rooij IA, Wevers RA, Zielhuis GA, Spauwen PH, Brussel W, Steegers-Theunissen RP. Myo-inositol, glucose and zinc status as risk factors for non-syndromic cleft lip with or without cleft palate in offspring: a case-control study. Bjog : An International Journal of Obstetrics and Gynaecology. 111: 661-8. PMID 15198755 DOI: 10.1111/j.1471-0528.2004.00171.x  0.92
2004 Assmann BE, Robinson RO, Surtees RAH, Bräutigam C, Heales SJR, Wevers RA, Zschocke J, Hyland K, Sharma R, Hoffmann GF. Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF Neurology. 62: 1872-1874. PMID 15159499  0.92
2004 Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. Neurology. 62: 1503-8. PMID 15136672  0.92
2004 Janssens PMW, De Jong JGN, Liebrand-Van Sambeek MLF, Wevers RA, De Groot ANJA, Kooper AJA, Tan-Sindhunata MB, Bijlsma EK. Hydrops fetalis as a result of inborn errors of metabolism | Hydrops foetalis als mogelijk gevolg van erfelijke stofwisselingsziekten Nederlands Tijdschrift Voor Klinische Chemie En Laboratoriumgeneeskunde. 29: 184-187.  0.92
1987 Rigiani NR, Wevers RA, Rijk E, Soons JB. Postsynthetic modification of human enolase isoenzymes. Clinical Chemistry. 33: 757-760. PMID 3594809  0.92
1985 Wevers RA, Hagelauer U, Stein W, Bohner J, Faust U, van Landeghem AA, Soons JB. Indices for the age of the creatine kinase M-chain in the blood. Clinica Chimica Acta; International Journal of Clinical Chemistry. 148: 197-210. PMID 4042354 DOI: 10.1016/0009-8981(85)90146-9  0.92
1984 Wevers RA, Boegheim JP, Hommes OR, van Landeghem AA, Mul-Steinbusch MW, van der Stappen JW, Soons JB. A study on post-synthetic modifications in alfa-alfa enolase (EC 4.2.1.11) brought about by a human serum protein. Clinica Chimica Acta; International Journal of Clinical Chemistry. 139: 127-35. PMID 6733928 DOI: 10.1016/0009-8981(84)90321-8  0.92
1983 Wevers RA, van Landeghem AA, Mul-Steinbusch MW, Bijdendijk JG, Weerts P, Kloeg P, Soons JB. Immunological measurements on the disappearance of creatine kinase MM from the circulation. Clinica Chimica Acta; International Journal of Clinical Chemistry. 131: 193-200. PMID 6411387 DOI: 10.1016/0009-8981(83)90088-8  0.92
1982 Wevers RA, Reutelingsperger CP, Dam B, Soons JB. Mitochondrial creatine kinase (EC 2.7.3.2) in the brain. Clinica Chimica Acta; International Journal of Clinical Chemistry. 119: 209-23. PMID 7067120 DOI: 10.1016/0009-8981(82)90333-3  0.92
1980 Wevers RA, Mul-Steinbusch MW, Soons JB. Mitochondrial CK (EC 2.7.3.2) in the human heart. Clinica Chimica Acta; International Journal of Clinical Chemistry. 101: 103-11. PMID 6987009 DOI: 10.1016/0009-8981(80)90061-3  0.92
1978 Wevers RA, Delsing M, Klein Gebbink JA, Soons JB. Post-synthetic changes in creatine kinase isozymes (EC 2.7.3.2). Clinica Chimica Acta; International Journal of Clinical Chemistry. 86: 323-7. PMID 668123 DOI: 10.1016/0009-8981(78)90388-1  0.92
1977 Wevers RA, Wolters RJ, Soons JB. Isoelectric focusing and hybridisation experiments on creatine kinase (EC 2.7.3.2). Clinica Chimica Acta; International Journal of Clinical Chemistry. 78: 271-6. PMID 884860 DOI: 10.1016/0009-8981(77)90316-3  0.92
1977 Wevers RA, Olthuis HP, Van Niel JC, Van Wilgenburg MG, Soons JB. A study on the dimeric structure of creatine kinase (EC 2.7.3.2). Clinica Chimica Acta; International Journal of Clinical Chemistry. 75: 377-85. PMID 852129 DOI: 10.1016/0009-8981(77)90356-4  0.92
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