| The frequency of lysosomal storage diseases in The Netherlands BJHM Poorthuis, RA Wevers, WJ Kleijer, JEM Groener, JGN de Jong, ... Human genetics 105, 151-156, 1999 | 974 | 1999 |
| Performance of near-infrared spectroscopy in measuring local O2 consumption and blood flow in skeletal muscle MCP Van Beekvelt, WNJM Colier, RA Wevers, BGM Van Engelen Journal of applied physiology 90 (2), 511-519, 2001 | 671 | 2001 |
| Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism M Wyss, J Smeitink, RA Wevers, T Wallimann Biochimica et Biophysica Acta (BBA)-Bioenergetics 1102 (2), 119-166, 1992 | 517 | 1992 |
| Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ... Brain 133 (3), 655-670, 2010 | 423 | 2010 |
| Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle MCP Van Beekvelt, MS Borghuis, BGM Van Engelen, RA Wevers, ... Clinical science 101 (1), 21-28, 2001 | 418 | 2001 |
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32-34, 2008 | 415 | 2008 |
| Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man K Tuschl, PT Clayton, SM Gospe, S Gulab, S Ibrahim, P Singhi, R Aulakh, ... The American Journal of Human Genetics 90 (3), 457-466, 2012 | 375 | 2012 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 311 | 2016 |
| SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ... Cell 142 (2), 203-217, 2010 | 308 | 2010 |
| Elevated plasma chitotriosidase activity in various lysosomal storage disorders Y Guo, W He, AM Boer, RA Wevers, AM De Bruijn, JEM Groener, ... Journal of inherited metabolic disease 18 (6), 717-722, 1995 | 286 | 1995 |
| Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. JG De Jong, RA Wevers, C Laarakkers, BJ Poorthuis Clinical chemistry 35 (7), 1472-1477, 1989 | 285 | 1989 |
| Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene HR Waterham, FA Wijburg, RCM Hennekam, P Vreken, L Dorland, ... The American Journal of Human Genetics 63 (2), 329-338, 1998 | 280 | 1998 |
| Multiple phenotypes in phosphoglucomutase 1 deficiency LC Tegtmeyer, S Rust, M van Scherpenzeel, BG Ng, ME Losfeld, S Timal, ... New England Journal of Medicine 370 (6), 533-542, 2014 | 274 | 2014 |
| Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism R Steinfeld, M Grapp, R Kraetzner, S Dreha-Kulaczewski, G Helms, ... The American Journal of Human Genetics 85 (3), 354-363, 2009 | 270 | 2009 |
| Role of cobalamin intake and atrophic gastritis in mild cobalamin deficiency in older Dutch subjects DZB van Asselt, LC de Groot, WA van Staveren, HJ Blom, RA Wevers, ... The American journal of clinical nutrition 68 (2), 328-334, 1998 | 266 | 1998 |
| Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis A Verrips, LH Hoefsloot, GCH Steenbergen, JP Theelen, RA Wevers, ... Brain 123 (5), 908-919, 2000 | 261 | 2000 |
| Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review S Wopereis, DJ Lefeber, E Morava, RA Wevers Clinical chemistry 52 (4), 574-600, 2006 | 256 | 2006 |
| SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness R Carrozzo, C Dionisi-Vici, U Steuerwald, S Lucioli, F Deodato, ... Brain 130 (3), 862-874, 2007 | 248 | 2007 |
| Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010 | 233 | 2010 |
| Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies DJ Lefeber, J Schönberger, E Morava, M Guillard, KM Huyben, K Verrijp, ... The American Journal of Human Genetics 85 (1), 76-86, 2009 | 230 | 2009 |
Dr Udo FH Engelkewetenschappelijk laboratoriummedewerkerGeverifieerd e-mailadres voor labgk.umcn.nl
