Neurometabolic disorders: Five new things

av Willemsen, Michèl A., Harting, Inga, Wevers, Ron A.
I publikationen Neurol Clin Pract (2016)

Reply to Leao-Teles et al

av Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
Publicerad 2010

Autosomal recessive cutis laxa syndrome revisited

av Morava, Éva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
Publicerad 2009

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

av Chinopoulos, Christos, Wevers, Ron A., Waterham, Hans R., Zafeiriou, Dimitrios
I publikationen Mol Genet Metab Rep (2018)

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

av Leen, Wilhelmina G., Willemsen, Michèl A., Wevers, Ron A., Verbeek, Marcel M.
Publicerad 2012

Metabolic cutis laxa syndromes

av Mohamed, Miski, Kouwenberg, Dorus, Gardeitchik, Thatjana, Kornak, Uwe, Wevers, Ron A., Morava, Eva
Publicerad 2011

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

av Wortmann, Saskia B., Kluijtmans, Leo A. J., Sequeira, Silvia, Wevers, Ron A., Morava, Eva
I publikationen JIMD Rep (2014)

Normal glycosylation screening does not rule out SRD5A3-CDG

av Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva
Publicerad 2011

The 3-methylglutaconic acidurias: what’s new?

av Wortmann, Saskia B., Kluijtmans, Leo A., Engelke, Udo F. H., Wevers, Ron A., Morava, Eva
Publicerad 2010

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

av Engel, Jasper, Blanchet, Lionel, Engelke, Udo F. H., Wevers, Ron A., Buydens, Lutgarde M. C.
Publicerad 2014

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

av Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry
Publicerad 1999

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

av Janssen, Barbara H., Lassche, Saskia, Hopman, Maria T., Wevers, Ron A., van Engelen, Baziel G. M., Heerschap, Arend
I publikationen Amino Acids (2016)

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

av Wassenberg, Tessa, Geurtz, Ben P.H., Monnens, Leo, Wevers, Ron A., Willemsen, Michèl A., Verbeek, Marcel M.
I publikationen Mol Genet Metab Rep (2021)

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

av Irwin, Cindy, Mienie, Lodewyk J., Wevers, Ron A., Mason, Shayne, Westerhuis, Johan A., van Reenen, Mari, Reinecke, Carolus J.
I publikationen Sci Rep (2018)

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

av Irwin, Cindy, van Reenen, Mari, Mason, Shayne, Mienie, Lodewyk J., Wevers, Ron A., Westerhuis, Johan A., Reinecke, Carolus J.
I publikationen PLoS One (2018)

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

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

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

av Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.
I publikationen JIMD Rep (2015)

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

av Malatji, Bontle G., Meyer, Helgard, Mason, Shayne, Engelke, Udo F.H., Wevers, Ron A., van Reenen, Mari, Reinecke, Carolus J.
I publikationen 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...

av Mason, Shayne, van Furth, A. Marceline, Mienie, Lodewyk J., Engelke, Udo F. H., Wevers, Ron A., Solomons, Regan, Reinecke, Carolus J.
I publikationen Metabolomics (2014)

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

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