| Year |
Citation |
Score |
| 2020 |
Graham Linck EJ, Richmond PA, Tarailo-Graovac M, Engelke U, Kluijtmans LAJ, Coene KLM, Wevers RA, Wasserman W, van Karnebeek CDM, Mostafavi S. metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes. Npj Genomic Medicine. 5: 25. PMID 32637154 DOI: 10.1038/S41525-020-0132-5 |
0.313 |
|
| 2020 |
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, ... ... Wevers RA, et al. Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa. Journal of Inherited Metabolic Disease. PMID 32418222 DOI: 10.1002/Jimd.12255 |
0.31 |
|
| 2020 |
Peters TMA, Engelke UFH, de Boer S, van der Heeft E, Pritsch C, Kulkarni P, Wevers RA, Willemsen MAAP, Verbeek MM, Coene KLM. Confirmation of neurometabolic diagnoses using age-dependent CSF metabolomic profiles. Journal of Inherited Metabolic Disease. PMID 32406085 DOI: 10.1002/Jimd.12253 |
0.32 |
|
| 2019 |
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, ... ... Wevers RA, et al. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. American Journal of Human Genetics. PMID 31422819 DOI: 10.1016/J.Ajhg.2019.07.015 |
0.344 |
|
| 2019 |
Wevers RA, Christensen M, Engelke UFH, Geuer S, Coene KLM, Kwast JT, Lund AM, Vissers LELM. Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine. Journal of Inherited Metabolic Disease. 42: 494-500. PMID 30847922 DOI: 10.1002/Jimd.12081 |
0.32 |
|
| 2019 |
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, ... ... Wevers RA, et al. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain : a Journal of Neurology. PMID 30668673 DOI: 10.1093/Brain/Awy346 |
0.359 |
|
| 2019 |
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, et al. SLC13A3 variants cause acute reversible leukoencephalopathy and αKG accumulation. Annals of Neurology. PMID 30635937 DOI: 10.1002/Ana.25412 |
0.314 |
|
| 2018 |
Wen XY, Tarailo-Graovac M, Brand-Arzamendi K, Willems A, Rakic B, Huijben K, Da Silva A, Pan X, El-Rass S, Ng R, Selby K, Philip AM, Yun J, Ye XC, Ross CJ, ... ... Wevers RA, et al. Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function. Jci Insight. 3. PMID 30568043 DOI: 10.1172/Jci.Insight.122373 |
0.317 |
|
| 2018 |
Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D. Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder. Molecular Genetics and Metabolism. PMID 30470562 DOI: 10.1016/J.Ymgme.2018.11.009 |
0.369 |
|
| 2018 |
Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, ... ... Wevers RA, et al. Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. American Journal of Human Genetics. PMID 29909962 DOI: 10.1016/J.Ajhg.2018.05.004 |
0.323 |
|
| 2018 |
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, ... ... Wevers RA, et al. Biallelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. American Journal of Human Genetics. PMID 29576219 DOI: 10.1016/J.Ajhg.2018.02.012 |
0.304 |
|
| 2018 |
Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, ... ... Wevers RA, et al. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. Journal of Inherited Metabolic Disease. PMID 29453510 DOI: 10.1007/S10545-017-0131-6 |
0.319 |
|
| 2018 |
van den Berg MP, Almomani R, Biaggioni I, van Faassen M, van der Harst P, Silljé HH, Mateo Leach I, Hemmelder M, Navis G, Luijckx GJ, de Brouwer AP, Venselaar H, Verbeek MM, van der Zwaag PA, Jongbloed JD, ... ... Wevers RA, et al. Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome. Circulation Research. PMID 29343526 DOI: 10.1161/Circresaha.117.311949 |
0.358 |
|
| 2017 |
Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, ... ... Wevers RA, et al. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. Nature Genetics. PMID 29255262 DOI: 10.1038/S41588-017-0006-7 |
0.354 |
|
| 2017 |
Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V. Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]. Neuromuscular Disorders : Nmd. PMID 29246662 DOI: 10.1016/J.Nmd.2017.11.012 |
0.301 |
|
| 2017 |
Wortmann SB, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait D, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, ... ... Wevers RA, et al. Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases. Annals of Neurology. PMID 29205472 DOI: 10.1002/Ana.25110 |
0.306 |
|
| 2017 |
Václavík J, Coene KLM, Vrobel I, Najdekr L, Friedecký D, Karlíková R, Mádrová L, Petsalo A, Engelke UFH, van Wegberg A, Kluijtmans LAJ, Adam T, Wevers RA. Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra. Journal of Inherited Metabolic Disease. PMID 29139026 DOI: 10.1007/S10545-017-0109-4 |
0.311 |
|
| 2017 |
Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A. Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. Journal of Inherited Metabolic Disease. PMID 28894950 DOI: 10.1007/S10545-017-0086-7 |
0.329 |
|
| 2017 |
Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscular Disorders : Nmd. PMID 28803818 DOI: 10.1016/J.Nmd.2017.07.006 |
0.321 |
|
| 2017 |
Sequeira S, Rodrigues M, Jacinto S, Wevers RA, Wortmann SB. MEGDEL Syndrome: Expanding the Phenotype and New Mutations. Neuropediatrics. PMID 28505671 DOI: 10.1055/S-0037-1602833 |
0.361 |
|
| 2017 |
Malatji BG, Meyer H, Mason S, Engelke UFH, Wevers RA, van Reenen M, Reinecke CJ. A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls. Bmc Neurology. 17: 88. PMID 28490352 DOI: 10.1186/S12883-017-0863-9 |
0.302 |
|
| 2017 |
Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome. European Journal of Human Genetics : Ejhg. PMID 28378819 DOI: 10.1038/Ejhg.2017.45 |
0.324 |
|
| 2017 |
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, ... ... Wevers RA, et al. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Journal of Inherited Metabolic Disease. PMID 28205048 DOI: 10.1007/S10545-017-0015-9 |
0.355 |
|
| 2016 |
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, ... ... Wevers RA, et al. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. American Journal of Human Genetics. PMID 28065471 DOI: 10.1016/J.Ajhg.2016.12.010 |
0.321 |
|
| 2016 |
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, et al. CAD mutations and uridine-responsive epileptic encephalopathy. Brain : a Journal of Neurology. PMID 28007989 DOI: 10.1093/Brain/Aww300 |
0.323 |
|
| 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 |
0.346 |
|
| 2016 |
Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, ... ... Wevers RA, et al. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nature Communications. 7: 11600. PMID 27231034 DOI: 10.1038/Ncomms11600 |
0.312 |
|
| 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 |
0.323 |
|
| 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 |
0.363 |
|
| 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 |
0.357 |
|
| 2016 |
Mason S, van Furth AMT, Solomons R, Wevers RA, van Reenen M, Reinecke CJ. A putative urinary biosignature for diagnosis and follow-up of tuberculous meningitis in children: outcome of a metabolomics study disclosing host–pathogen responses Metabolomics. 12. DOI: 10.1007/S11306-016-1053-2 |
0.309 |
|
| 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 |
0.342 |
|
| 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 |
0.316 |
|
| 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: 2177-82. PMID 25934851 DOI: 10.1212/Wnl.0000000000001615 |
0.304 |
|
| 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 |
0.34 |
|
| 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 |
0.341 |
|
| 2015 |
Wortmann SB, Ziętkiewicz 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 |
0.342 |
|
| 2015 |
Huigen MC, van der Graaf M, Morava E, Dassel AC, van Steensel MA, Seyger MM, Wevers RA, Willemsen MA. Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. Molecular Genetics and Metabolism. 114: 51-4. PMID 25468645 DOI: 10.1016/J.Ymgme.2014.10.016 |
0.312 |
|
| 2015 |
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. Journal of Inherited Metabolic Disease. 38: 99-110. PMID 25178427 DOI: 10.1007/S10545-014-9759-7 |
0.334 |
|
| 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 |
0.315 |
|
| 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 |
0.355 |
|
| 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 |
0.371 |
|
| 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 |
0.326 |
|
| 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 |
0.317 |
|
| 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 |
0.34 |
|
| 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 |
0.31 |
|
| 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 |
0.358 |
|
| 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 |
0.351 |
|
| 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 |
0.312 |
|
| 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 |
0.301 |
|
| 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 |
0.329 |
|
| 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 |
0.35 |
|
| 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 |
0.346 |
|
| 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 |
0.341 |
|
| 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 |
0.344 |
|
| 2013 |
Kroeze LI, Aslanyan MG, van Rooij A, Koorenhof-Scheele TN, Massop M, Carell T, Boezeman JB, Marie J, Halkes CJ, de Witte TM, Huls G, Suciu S, Wevers R, van der Reijden BA, Jansen JH. Aberrant 5-Hydroxymethylcytosine Levels Correlate With Poor Overall Survival In Acute Myeloid Leukemia Blood. 122: 1261-1261. DOI: 10.1182/Blood.V122.21.1261.1261 |
0.328 |
|
| 2013 |
Tuschl K, Clayton P, Gospe S, Shamshad G, Ibrahim S, Singhi P, Ribeiro R, Zaki, Rosario MLd, Dyack S, Price V, Wevers R, Mills P. The first inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified manganese transporter The Lancet. 381. DOI: 10.1016/S0140-6736(13)60550-4 |
0.327 |
|
| 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 |
0.332 |
|
| 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 |
0.348 |
|
| 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 |
0.365 |
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| 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 |
0.317 |
|
| 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 |
0.323 |
|
| 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 |
0.352 |
|
| 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 |
0.345 |
|
| 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 |
0.335 |
|
| 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 |
0.313 |
|
| 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 |
0.359 |
|
| 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 |
0.335 |
|
| 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 |
0.348 |
|
| 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 |
0.344 |
|
| 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 |
0.334 |
|
| 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 |
0.331 |
|
| 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 |
0.335 |
|
| 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 |
0.352 |
|
| 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 |
0.33 |
|
| 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 |
0.328 |
|
| 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 |
0.32 |
|
| 2011 |
Kühnisch J, Morava E, Drijvers J, Robben J, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, der Grinten HC, O'Neill C, Willemsen M, ... ... Wevers R, et al. A novel skeletal disorder characterized by progressive spondyloarthropathy is caused by a recessive ANKH mutation Bone. 48: S154-S155. DOI: 10.1016/J.Bone.2011.03.334 |
0.311 |
|
| 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 |
0.322 |
|
| 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 DOI: 10.5414/Npp29361 |
0.354 |
|
| 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 |
0.308 |
|
| 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: 759-67. PMID 20852935 DOI: 10.1007/S10545-010-9199-Y |
0.36 |
|
| 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 |
0.37 |
|
| 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 |
0.337 |
|
| 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 |
0.379 |
|
| 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 |
0.34 |
|
| 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 |
0.3 |
|
| 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 |
0.33 |
|
| 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 |
0.349 |
|
| 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 |
0.356 |
|
| 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 |
0.302 |
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| 2009 |
Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. American Journal of Human Genetics. 85: 354-63. PMID 19732866 DOI: 10.1016/J.Ajhg.2009.08.005 |
0.351 |
|
| 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 |
0.355 |
|
| 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 |
0.307 |
|
| 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 |
0.334 |
|
| 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 |
0.338 |
|
| 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 |
0.361 |
|
| 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 |
0.332 |
|
| 2009 |
Zafeiriou DI, Willemsen MAAP, Verbeek MM, Vargiami E, Ververi A, Wevers RA. Tyrosine hydroxylase deficiency with severe clinical course. Molecular Genetics and Metabolism. 97: 18-20. PMID 19282209 DOI: 10.1016/J.Ymgme.2009.02.001 |
0.358 |
|
| 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 |
0.346 |
|
| 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 |
0.331 |
|
| 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 |
0.364 |
|
| 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 |
0.357 |
|
| 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 |
0.326 |
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| 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 |
0.301 |
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| 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 |
0.342 |
|
| 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 |
0.314 |
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| 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 |
0.321 |
|
| 2008 |
Kornak U, Reynders E, Dimopoulou A, Van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Dobyns WB, Quelhas D, Vilarinho L, Leao-Teles E, Greally M, Seemanova E, ... ... Wevers R, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nature Genetics. 40: 32-34. PMID 18157129 DOI: 10.1038/Ng.2007.45 |
0.306 |
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| 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 |
0.348 |
|
| 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 |
0.368 |
|
| 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 |
0.35 |
|
| 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 |
0.33 |
|
| 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 |
0.354 |
|
| 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 |
0.35 |
|
| 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 |
0.363 |
|
| 2007 |
Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G. Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Molecular Genetics and Metabolism. 90: 408-13. PMID 17307006 DOI: 10.1016/J.Ymgme.2007.01.003 |
0.322 |
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| 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 |
0.383 |
|
| 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 |
0.322 |
|
| 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 |
0.377 |
|
| 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 |
0.3 |
|
| 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 |
0.331 |
|
| 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 |
0.348 |
|
| 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 |
0.306 |
|
| 2006 |
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Molecular Genetics and Metabolism. 88: 47-52. PMID 16527507 DOI: 10.1016/J.Ymgme.2006.01.013 |
0.368 |
|
| 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 |
0.365 |
|
| 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 |
0.339 |
|
| 2006 |
Hove JLKV, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Møller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency Journal of Neurology, Neurosurgery, and Psychiatry. 77: 18-23. PMID 16361586 DOI: 10.1136/Jnnp.2004.051664 |
0.32 |
|
| 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 |
0.316 |
|
| 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 |
0.302 |
|
| 2005 |
Guyant-Maréchal L, Verrips A, Girard C, Wevers RA, Zijlstra F, Sistermans E, Vera P, Campion D, Hannequin D. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. American Journal of Medical Genetics. Part A. 139: 114-7. PMID 16278884 DOI: 10.1002/Ajmg.A.30797 |
0.334 |
|
| 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 |
0.339 |
|
| 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 |
0.348 |
|
| 2005 |
Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. Journal of Inherited Metabolic Disease. 28: 703-6. PMID 16151901 DOI: 10.1007/S10545-005-0095-9 |
0.32 |
|
| 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 |
0.323 |
|
| 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 |
0.344 |
|
| 2005 |
Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S. Defective protein glycosylation in patients with cutis laxa syndrome. European Journal of Human Genetics : Ejhg. 13: 414-21. PMID 15657616 DOI: 10.1038/Sj.Ejhg.5201361 |
0.365 |
|
| 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 |
0.301 |
|
| 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 |
0.32 |
|
| 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 |
0.308 |
|
| 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 DOI: 10.1136/Jmg.2003.016923 |
0.362 |
|
| 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 DOI: 10.1212/01.Wnl.0000123094.13406.20 |
0.344 |
|
| 2004 |
Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, Drenth JP. Mevalonate kinase deficiency: Evidence for a phenotypic continuum. Neurology. 62: 994-7. PMID 15037710 DOI: 10.1212/01.Wnl.0000115390.33405.F7 |
0.317 |
|
| 2004 |
Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blázquez A, Andreu AL, Arenas J. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. Annals of Human Genetics. 68: 17-22. PMID 14748827 DOI: 10.1046/J.1529-8817.2003.00067.X |
0.314 |
|
| 2004 |
Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Human Mutation. 23: 47-56. PMID 14695532 DOI: 10.1002/Humu.10286 |
0.323 |
|
| 2004 |
Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Smith-Lemli-Opitz syndrome and the DHCR7 gene. Annals of Human Genetics. 67: 269-80. PMID 12914579 DOI: 10.1046/J.1469-1809.2003.00034.X |
0.343 |
|
| 2003 |
Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Annals of Neurology. S56-65. PMID 12891655 DOI: 10.1002/Ana.10632 |
0.347 |
|
| 2003 |
Van Hove JL, Wevers RA, Van Cleemput J, Moerman P, Sciot R, Matthijs G, Schollen E, de Jong JG, Carey WF, Muller V, Nicholls C, Perkins K, Hopwood JJ. Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. American Journal of Medical Genetics. Part A. 382-7. PMID 12687673 DOI: 10.1002/Ajmg.A.20068 |
0.33 |
|
| 2003 |
Van Der Heyden JC, Rotteveel JJ, Wevers RA. Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 7: 31-7. PMID 12615172 DOI: 10.1016/S1090-3798(02)00137-X |
0.303 |
|
| 2003 |
Mazón Ramos A, Gil-Setas A, Berrade Zubiri S, Bandrés Echeverri T, Wevers R, Engelke U, Zschocke J. [Primary trimethylaminuria or fish odor syndrome. A novel mutation in the first documented case in Spain]. Medicina Clinica. 120: 219-21. PMID 12605812 DOI: 10.1016/S0025-7753(03)73656-2 |
0.304 |
|
| 2003 |
Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. Journal of Inherited Metabolic Disease. 25: 501-13. PMID 12555943 DOI: 10.1023/A:1021211520034 |
0.323 |
|
| 2003 |
Ruitenbeek W, Kobayashi K, Iijima M, Smeitink JA, Engelke UF, De Abreu RA, Kwast HT, Saheki T, Boelen CA, De Jong JG, Wevers RA. Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase. Annals of Clinical Biochemistry. 40: 102-7. PMID 12542919 DOI: 10.1258/000456303321016259 |
0.372 |
|
| 2003 |
van den Heuvel LP, Farhoud MH, Wevers RA, van Engelen BG, Smeitink JA. Proteomics and neuromuscular diseases: theoretical concept and first results. Annals of Clinical Biochemistry. 40: 9-15. PMID 12542906 DOI: 10.1258/000456303321016123 |
0.31 |
|
| 2002 |
Bedilu R, Nummy KA, Cooper A, Wevers R, Smeitink J, Kleijer WJ, Friderici KH. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Molecular Genetics and Metabolism. 77: 282-90. PMID 12468273 DOI: 10.1016/S1096-7192(02)00172-5 |
0.339 |
|
| 2002 |
Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. Neuropediatrics. 33: 203-8. PMID 12368991 DOI: 10.1055/S-2002-34497 |
0.301 |
|
| 2002 |
Vissing J, Ravn K, Danielsen ER, Dunø M, Wibrand F, Wevers RA, Schwartz M. Multiple mtDNA deletions with features of MNGIE. Neurology. 59: 926-9. PMID 12297582 DOI: 10.1212/Wnl.59.6.926 |
0.307 |
|
| 2002 |
Van Hove JL, Van Damme-Lombaerts R, Grünewald S, Peters H, Van Damme B, Fryns JP, Arnout J, Wevers R, Baumgartner ER, Fowler B. Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. American Journal of Medical Genetics. 111: 195-201. PMID 12210350 DOI: 10.1002/Ajmg.10499 |
0.3 |
|
| 2002 |
Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF. Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. Neuropediatrics. 33: 113-7. PMID 12200739 DOI: 10.1055/S-2002-33673 |
0.324 |
|
| 2002 |
Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VS, Earl J, Wilcken B. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 354-9. PMID 11921123 DOI: 10.1002/Mds.10095 |
0.303 |
|
| 2002 |
de Loos F, Huijben KM, van der Kar NC, Monnens LA, van den Heuvel LP, Groener JE, de Moor RA, Wevers RA. Hemolytic Uremic Syndrome Attributable to Streptococcus pneumoniae Infection: A Novel Cause for Secondary Protein N-Glycan Abnormalities Clinical Chemistry. 48: 781-784. DOI: 10.1093/Clinchem/48.5.781 |
0.335 |
|
| 2001 |
Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. Annals of Human Genetics. 65: 229-36. PMID 11427181 DOI: 10.1017/S0003480001008600 |
0.324 |
|
| 2001 |
Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Annals of Human Genetics. 64: 375-82. PMID 11281275 DOI: 10.1046/J.1469-1809.2000.6450375.X |
0.325 |
|
| 2001 |
Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Annals of Human Genetics. 64: 25-31. PMID 11246459 DOI: 10.1046/J.1469-1809.2000.6410025.X |
0.312 |
|
| 2001 |
Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J. Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. American Journal of Human Genetics. 68: 839-47. PMID 11231903 DOI: 10.1086/319520 |
0.359 |
|
| 2001 |
de Rijk-Van Andel JF, Gabreëls FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, Wevers RA. L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. Neurology. 55: 1926-8. PMID 11134401 DOI: 10.1212/Wnl.55.12.1926 |
0.311 |
|
| 2000 |
DE Lonlay P, Nassogne MC, van Gennip AH, van Cruchten AC, Billatte de Villemeur T, Cretz M, Stoll C, Launay JM, Steenberger-Spante GC, van den Heuvel LP, Wevers RA, Saudubray JM, Abeling NG. Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. Journal of Inherited Metabolic Disease. 23: 819-25. PMID 11196107 DOI: 10.1023/A:1026760602577 |
0.357 |
|
| 2000 |
Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. Human Genetics. 106: 538-45. PMID 10914684 DOI: 10.1007/S004390000293 |
0.327 |
|
| 2000 |
Huemer M, Huber WD, Schima W, Moeslinger D, Holzbach U, Wevers R, Wank H, Stoeckler-Ipsiroglu S. Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix. The Journal of Pediatrics. 136: 691-5. PMID 10802506 DOI: 10.1067/Mpd.2000.105130 |
0.311 |
|
| 2000 |
Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain : a Journal of Neurology. 908-19. PMID 10775536 DOI: 10.1093/Brain/123.5.908 |
0.322 |
|
| 2000 |
Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreëls FJ. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Archives of Neurology. 57: 520-4. PMID 10768627 DOI: 10.1001/Archneur.57.4.520 |
0.302 |
|
| 2000 |
Gr�newald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, De Klerk JBC, Stroink H, De Rijk-Van Andel JF, Van Hove JLK, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis Annals of Neurology. 47: 776-781. DOI: 10.1002/1531-8249(200006)47:6<776::Aid-Ana10>3.0.Co;2-5 |
0.322 |
|
| 1999 |
van der Knaap MS, Wevers RA, Kure S, Gabreëls FJ, Verhoeven NM, van Raaij-Selten B, Jaeken J. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. Journal of Child Neurology. 14: 728-31. PMID 10593550 DOI: 10.1177/088307389901401108 |
0.328 |
|
| 1999 |
van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Annals of Neurology. 46: 925-8. PMID 10589548 DOI: 10.1002/1531-8249(199912)46:6<925::Aid-Ana18>3.0.Co;2-J |
0.319 |
|
| 1999 |
Grünewald S, Huyben K, de Jong JG, Smeitink JA, Rubio E, Boers GH, Conradt HS, Wendel U, Wevers RA. beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain. Biochimica Et Biophysica Acta. 1455: 54-60. PMID 10524229 DOI: 10.1016/S0925-4439(99)00078-2 |
0.321 |
|
| 1999 |
Lehnert W, Stögmann W, Engelke U, Wevers RA, van den Berg GB. Long-term follow up of a new case of hawkinsinuria. European Journal of Pediatrics. 158: 578-82. PMID 10412819 DOI: 10.1007/S004310051151 |
0.324 |
|
| 1999 |
Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). Journal of Inherited Metabolic Disease. 22: 364-73. PMID 10407773 DOI: 10.1023/A:1005539803576 |
0.369 |
|
| 1999 |
Abeling NG, van Gennip AH, Blom H, Wevers RA, Vreken P, van Tinteren HL, Bakker HD. Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency. Journal of Inherited Metabolic Disease. 22: 240-2. PMID 10384377 DOI: 10.1023/A:1005509400481 |
0.333 |
|
| 1999 |
Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proceedings of the National Academy of Sciences of the United States of America. 96: 6982-7. PMID 10359825 DOI: 10.1073/Pnas.96.12.6982 |
0.369 |
|
| 1999 |
Wevers RA, Engelke UF, Moolenaar SH, Bräutigam C, de Jong JG, Duran R, de Abreu RA, van Gennip AH. 1H-NMR Spectroscopy of Body Fluids: Inborn Errors of Purine and Pyrimidine Metabolism Clinical Chemistry. 45: 539-548. DOI: 10.1093/Clinchem/45.4.539 |
0.303 |
|
| 1999 |
Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J, Wevers RA. Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study Clinical Chemistry. 45: 459-464. DOI: 10.1093/Clinchem/45.4.459 |
0.354 |
|
| 1999 |
Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA. Biochemical and Molecular Genetic Characteristics of the Severe Form of Tyrosine Hydroxylase Deficiency Clinical Chemistry. 45: 2073-2078. DOI: 10.1093/Clinchem/45.12.2073 |
0.348 |
|
| 1999 |
Van Der Knaap M, Wevers R, Struys E, Verhoeven N, Pouwels P, Jakobs C. 033 Polyols and a novel leukoencephalopathy European Journal of Paediatric Neurology. 3: A106. DOI: 10.1016/S1090-3798(99)91266-7 |
0.349 |
|
| 1998 |
Bandmann O, Valente EM, Holmans P, Surtees RAH, Walters JH, Wevers RA, Marsden CD, Wood NW. Dopa-responsive dystonia: A clinical and molecular genetic study Annals of Neurology. 44: 649-656. PMID 9778264 DOI: 10.1002/Ana.410440411 |
0.324 |
|
| 1998 |
Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. The Journal of Clinical Investigation. 102: 647-52. PMID 9710431 DOI: 10.1172/Jci2266 |
0.344 |
|
| 1998 |
van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Human Genetics. 102: 644-6. PMID 9703425 DOI: 10.1007/S004390050756 |
0.311 |
|
| 1998 |
Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ. Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. Journal of Inherited Metabolic Disease. 21: 416-22. PMID 9700599 DOI: 10.1023/A:1005362826552 |
0.33 |
|
| 1998 |
Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. American Journal of Human Genetics. 63: 329-38. PMID 9683613 DOI: 10.1086/301982 |
0.322 |
|
| 1998 |
Hoffmann GF, Surtees RA, Wevers RA. Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics. 29: 59-71. PMID 9638660 DOI: 10.1055/S-2007-973538 |
0.37 |
|
| 1998 |
de Jong JG, Aerts JM, van Weely S, Hollak CE, van Pelt J, van Woerkom LM, Liebrand-van Sambeek ML, Wevers RA. Oligosaccharide excretion in adult Gaucher disease. Journal of Inherited Metabolic Disease. 21: 49-59. PMID 9501269 DOI: 10.1023/A:1005311430722 |
0.309 |
|
| 1998 |
Bräutigam C, Wevers RA, Jansen RJT, Smeitink JAM, Andel JFdR, Gabreëls FJM, Hoffmann GF. Biochemical hallmarks of tyrosine hydroxylase deficiency Clinical Chemistry. 44: 1897-1904. DOI: 10.1093/Clinchem/44.9.1897 |
0.368 |
|
| 1997 |
Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. The Journal of Pediatrics. 131: 626-31. PMID 9386672 DOI: 10.1016/S0022-3476(97)70075-1 |
0.349 |
|
| 1997 |
Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. Human Mutation. 10: 348-58. PMID 9375849 DOI: 10.1002/(Sici)1098-1004(1997)10:5<348::Aid-Humu3>3.0.Co;2-B |
0.354 |
|
| 1997 |
Assmann B, Hoffmann GF, Wagner L, Bräutigam C, Seyberth HW, Duran M, Van Kuilenburg AB, Wevers R, Van Gennip AH. Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? Journal of Inherited Metabolic Disease. 20: 681-8. PMID 9323563 DOI: 10.1023/A:1005374426168 |
0.33 |
|
| 1997 |
Putman CW, Rotteveel JJ, Wevers RA, van Gennip AH, Bakkeren JA, De Abreu RA. Dihydropyrimidinase deficiency, a progressive neurological disorder? Neuropediatrics. 28: 106-10. PMID 9208410 DOI: 10.1055/S-2007-973681 |
0.355 |
|
| 1997 |
Nooijen PT, Schoonderwaldt HC, Wevers RA, Hommes OR, Lamers KJ. Neuron-specific enolase, S-100 protein, myelin basic protein and lactate in CSF in dementia. Dementia and Geriatric Cognitive Disorders. 8: 169-73. PMID 9137895 DOI: 10.1159/000106627 |
0.302 |
|
| 1997 |
Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis. Human Genetics. 98: 735-7. PMID 8931710 DOI: 10.1007/S004390050294 |
0.316 |
|
| 1996 |
van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, van Wijk JA. Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. Journal of Inherited Metabolic Disease. 19: 787-91. PMID 8982953 DOI: 10.1007/Bf01799174 |
0.318 |
|
| 1996 |
Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. Journal of Medical Genetics. 33: 458-64. PMID 8782044 DOI: 10.1136/Jmg.33.6.458 |
0.319 |
|
| 1994 |
Wevers RA, Hansen SI, van Hellenberg Hubar JL, Holm J, Høier-Madsen M, Jongen PJ. Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system. Journal of Neurology, Neurosurgery, and Psychiatry. 57: 223-6. PMID 8126512 DOI: 10.1136/Jnnp.57.2.223 |
0.314 |
|
| 1994 |
de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R. alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. The Journal of Pediatrics. 125: 385-91. PMID 8071745 DOI: 10.1016/S0022-3476(05)83281-0 |
0.32 |
|
| 1994 |
Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria. Journal of Inherited Metabolic Disease. 17: 67-73. PMID 8051938 DOI: 10.1007/Bf00735397 |
0.307 |
|
| 1994 |
van de Vlasakker CJ, Gabreëls FJ, Wijburg HC, Wevers RA. Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature. Clinical Neurology and Neurosurgery. 96: 119-23. PMID 7924073 DOI: 10.1016/0303-8467(94)90044-2 |
0.312 |
|
| 1994 |
Peelen GO, de Jong JG, Wevers RA. HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients Clinical Chemistry. 40: 914-921. DOI: 10.1093/Clinchem/40.6.914 |
0.306 |
|
| 1992 |
Wijburg H, de Jong J, Wevers R, Bakkeren J, Trijbels F, Sengers R. Beta-mannosidosis and ethanolaminuria in a female patient. European Journal of Pediatrics. 151: 311. PMID 1499588 DOI: 10.1007/Bf02072238 |
0.317 |
|
| 1989 |
van Sande M, Hendriks D, Soons J, Scharpé S, Wevers R, Holmquist B. Post synthetic modification of CK-MM by kininase I Advances in Experimental Medicine and Biology. 247: 319-324. PMID 2603797 DOI: 10.1007/978-1-4615-9543-4_47 |
0.683 |
|
| 1988 |
Sinkeler SP, Joosten EM, Wevers RA, Oei TL, Jacobs AE, Veerkamp JH, Hamel BC. Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families. Muscle & Nerve. 11: 312-7. PMID 3398878 DOI: 10.1002/Mus.880110406 |
0.312 |
|
| 1988 |
Hendriks D, Soons J, Scharpé S, Wevers R, van Sande M, Holmquist B. Identification of the carboxypeptidase responsible for the post-synthetic modification of creatine kinase in human serum Clinica Chimica Acta. 172: 253-260. PMID 3131050 DOI: 10.1016/0009-8981(88)90331-2 |
0.701 |
|
| 1987 |
Jansen PH, Schoonderwaldt HC, Renier WO, Wevers RA, Gabreëls FJ. Mannosidosis: a study of two patients, presenting clinical heterogeneity. Clinical Neurology and Neurosurgery. 89: 185-92. PMID 3665292 DOI: 10.1016/S0303-8467(87)80053-7 |
0.333 |
|
| 1987 |
Rigiani NR, Wevers RA, Rijk E, Soons JB. Postsynthetic modification of human enolase isoenzymes. Clinical Chemistry. 33: 757-760. PMID 3594809 DOI: 10.1093/Clinchem/33.6.757 |
0.683 |
|
| 1987 |
Bernsen PL, Wevers RA, Gabreëls FJ, Lamers KJ, Sonnen AE, Stekhoven JH. Phenotypic expression in mucopolysaccharidosis VII. Journal of Neurology, Neurosurgery, and Psychiatry. 50: 699-703. PMID 3112309 DOI: 10.1136/Jnnp.50.6.699 |
0.324 |
|
| 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 |
0.693 |
|
| 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 |
0.706 |
|
| 1984 |
Wevers RA, Jacobs AA, Hommes OR. A bioluminescent assay for enolase (EC 4.2.1.11) activity in human serum and cerebrospinal fluid. Clinica Chimica Acta; International Journal of Clinical Chemistry. 135: 159-68. PMID 6652924 DOI: 10.1016/0009-8981(83)90131-6 |
0.306 |
|
| 1984 |
Wevers RA, Jansen PH, van Woerkom LM, Doesburg WH, Hommes OR. The significance of total creatine kinase activity and isozyme determinations in cerebrospinal fluid of neurological patients. Clinica Chimica Acta; International Journal of Clinical Chemistry. 143: 193-201. PMID 6499218 DOI: 10.1016/0009-8981(84)90069-X |
0.301 |
|
| 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 |
0.701 |
|
| 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 |
0.698 |
|
| 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 |
0.695 |
|
| 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 |
0.695 |
|
| 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 |
0.676 |
|
| 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 |
0.678 |
|
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