Neurometabolic disorders: Five new things

Por Willemsen, Michèl A., Harting, Inga, Wevers, Ron A.
Publicado no Neurol Clin Pract (2016)

Reply to Leao-Teles et al

Por Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
Publicado em 2010

Autosomal recessive cutis laxa syndrome revisited

Por Morava, Éva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
Publicado em 2009

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

Por Chinopoulos, Christos, Wevers, Ron A., Waterham, Hans R., Zafeiriou, Dimitrios
Publicado no Mol Genet Metab Rep (2018)

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

Por Leen, Wilhelmina G., Willemsen, Michèl A., Wevers, Ron A., Verbeek, Marcel M.
Publicado em 2012

Metabolic cutis laxa syndromes

Por Mohamed, Miski, Kouwenberg, Dorus, Gardeitchik, Thatjana, Kornak, Uwe, Wevers, Ron A., Morava, Eva
Publicado em 2011

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

Por Wortmann, Saskia B., Kluijtmans, Leo A. J., Sequeira, Silvia, Wevers, Ron A., Morava, Eva
Publicado no JIMD Rep (2014)

Normal glycosylation screening does not rule out SRD5A3-CDG

Por Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva
Publicado em 2011

The 3-methylglutaconic acidurias: what’s new?

Por Wortmann, Saskia B., Kluijtmans, Leo A., Engelke, Udo F. H., Wevers, Ron A., Morava, Eva
Publicado em 2010

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

Por Engel, Jasper, Blanchet, Lionel, Engelke, Udo F. H., Wevers, Ron A., Buydens, Lutgarde M. C.
Publicado em 2014

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

Por Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry
Publicado em 1999

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

Por Janssen, Barbara H., Lassche, Saskia, Hopman, Maria T., Wevers, Ron A., van Engelen, Baziel G. M., Heerschap, Arend
Publicado no Amino Acids (2016)

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

Por Irwin, Cindy, Mienie, Lodewyk J., Wevers, Ron A., Mason, Shayne, Westerhuis, Johan A., van Reenen, Mari, Reinecke, Carolus J.
Publicado no Sci Rep (2018)

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

Por Irwin, Cindy, van Reenen, Mari, Mason, Shayne, Mienie, Lodewyk J., Wevers, Ron A., Westerhuis, Johan A., Reinecke, Carolus J.
Publicado no PLoS One (2018)

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

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

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

Por Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.
Publicado no JIMD Rep (2015)

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

Por Malatji, Bontle G., Meyer, Helgard, Mason, Shayne, Engelke, Udo F.H., Wevers, Ron A., van Reenen, Mari, Reinecke, Carolus J.
Publicado no 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...

Por Mason, Shayne, van Furth, A. Marceline, Mienie, Lodewyk J., Engelke, Udo F. H., Wevers, Ron A., Solomons, Regan, Reinecke, Carolus J.
Publicado no Metabolomics (2014)

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

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

The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained

Por Wassenberg, Tessa, Monnens, Leo A. H., Geurtz, Ben P. B. H., Wevers, Ron A., Verbeek, Marcel M., Willemsen, Michèl A. A. P.
Publicado em 2011