Ron Wevers
Ron Wevers
Professor in Clinical Chemistry in Nijmegen
Patvirtintas el. paštas - Pagrindinis puslapis
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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Straipsniai 1–20