Neurometabolic disorders: Five new things

מאת Willemsen, Michèl A., Harting, Inga, Wevers, Ron A.
הוצא לאור ב Neurol Clin Pract (2016)

Reply to Leao-Teles et al

מאת Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
יצא לאור 2010

Autosomal recessive cutis laxa syndrome revisited

מאת Morava, Éva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
יצא לאור 2009

Response to “Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A”

מאת Chinopoulos, Christos, Wevers, Ron A., Waterham, Hans R., Zafeiriou, Dimitrios
הוצא לאור ב Mol Genet Metab Rep (2018)

Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice

מאת Leen, Wilhelmina G., Willemsen, Michèl A., Wevers, Ron A., Verbeek, Marcel M.
יצא לאור 2012

Metabolic cutis laxa syndromes

מאת Mohamed, Miski, Kouwenberg, Dorus, Gardeitchik, Thatjana, Kornak, Uwe, Wevers, Ron A., Morava, Eva
יצא לאור 2011

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

מאת Wortmann, Saskia B., Kluijtmans, Leo A. J., Sequeira, Silvia, Wevers, Ron A., Morava, Eva
הוצא לאור ב JIMD Rep (2014)

Normal glycosylation screening does not rule out SRD5A3-CDG

מאת Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva
יצא לאור 2011

The 3-methylglutaconic acidurias: what’s new?

מאת Wortmann, Saskia B., Kluijtmans, Leo A., Engelke, Udo F. H., Wevers, Ron A., Morava, Eva
יצא לאור 2010

Towards the Disease Biomarker in an Individual Patient Using Statistical Health Monitoring

מאת Engel, Jasper, Blanchet, Lionel, Engelke, Udo F. H., Wevers, Ron A., Buydens, Lutgarde M. C.
יצא לאור 2014

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

מאת Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry
יצא לאור 1999

Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility study

מאת Janssen, Barbara H., Lassche, Saskia, Hopman, Maria T., Wevers, Ron A., van Engelen, Baziel G. M., Heerschap, Arend
הוצא לאור ב Amino Acids (2016)

Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment

מאת Wassenberg, Tessa, Geurtz, Ben P.H., Monnens, Leo, Wevers, Ron A., Willemsen, Michèl A., Verbeek, Marcel M.
הוצא לאור ב Mol Genet Metab Rep (2021)

GC–MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption

מאת Irwin, Cindy, Mienie, Lodewyk J., Wevers, Ron A., Mason, Shayne, Westerhuis, Johan A., van Reenen, Mari, Reinecke, Carolus J.
הוצא לאור ב Sci Rep (2018)

The (1)H-NMR-based metabolite profile of acute alcohol consumption: A metabolomics intervention study

מאת Irwin, Cindy, van Reenen, Mari, Mason, Shayne, Mienie, Lodewyk J., Wevers, Ron A., Westerhuis, Johan A., Reinecke, Carolus J.
הוצא לאור ב PLoS One (2018)

Ovarian Cyst Fluid of Serous Ovarian Tumors Contains Large Quantities of the Brain Amino Acid N-acetylaspartate

מאת Kolwijck, Eva, Wevers, Ron A., Engelke, Udo F., Woudenberg, Jannes, Bulten, Johan, Blom, Henk J., Massuger, Leon F. A. G.
יצא לאור 2010

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

מאת Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.
הוצא לאור ב JIMD Rep (2015)

A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls

מאת Malatji, Bontle G., Meyer, Helgard, Mason, Shayne, Engelke, Udo F.H., Wevers, Ron A., van Reenen, Mari, Reinecke, Carolus J.
הוצא לאור ב BMC Neurol (2017)

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 men...

מאת Mason, Shayne, van Furth, A. Marceline, Mienie, Lodewyk J., Engelke, Udo F. H., Wevers, Ron A., Solomons, Regan, Reinecke, Carolus J.
הוצא לאור ב Metabolomics (2014)

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

מאת Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
יצא לאור 2010