檢索結果 - Wevers, Ron A

Neurometabolic disorders: Five new things 由 Willemsen, Michèl A., Harting, Inga, Wevers, Ron A.

獲取全文 獲取全文 獲取全文

Autosomal recessive cutis laxa syndrome revisited 由 Morava, Éva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

獲取全文 獲取全文 獲取全文

Reply to Leao-Teles et al 由 Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

獲取全文 獲取全文

Response to “Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A” 由 Chinopoulos, Christos, Wevers, Ron A., Waterham, Hans R., Zafeiriou, Dimitrios

獲取全文 獲取全文 獲取全文

Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice 由 Leen, Wilhelmina G., Willemsen, Michèl A., Wevers, Ron A., Verbeek, Marcel M.

獲取全文 獲取全文 獲取全文

Metabolic cutis laxa syndromes 由 Mohamed, Miski, Kouwenberg, Dorus, Gardeitchik, Thatjana, Kornak, Uwe, Wevers, Ron A., Morava, Eva

獲取全文 獲取全文 獲取全文

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect 由 Wortmann, Saskia B., Kluijtmans, Leo A. J., Sequeira, Silvia, Wevers, Ron A., Morava, Eva

獲取全文 獲取全文 獲取全文

Normal glycosylation screening does not rule out SRD5A3-CDG 由 Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva

獲取全文 獲取全文 獲取全文

The 3-methylglutaconic acidurias: what’s new? 由 Wortmann, Saskia B., Kluijtmans, Leo A., Engelke, Udo F. H., Wevers, Ron A., Morava, Eva

獲取全文 獲取全文 獲取全文

Towards the Disease Biomarker in an Individual Patient Using Statistical Health Monitoring 由 Engel, Jasper, Blanchet, Lionel, Engelke, Udo F. H., Wevers, Ron A., Buydens, Lutgarde M. C.

獲取全文 獲取全文 獲取全文

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic 由 Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry

獲取全文 獲取全文

Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility study 由 Janssen, Barbara H., Lassche, Saskia, Hopman, Maria T., Wevers, Ron A., van Engelen, Baziel G. M., Heerschap, Arend

獲取全文 獲取全文 獲取全文

Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment 由 Wassenberg, Tessa, Geurtz, Ben P.H., Monnens, Leo, Wevers, Ron A., Willemsen, Michèl A., Verbeek, Marcel M.

獲取全文 獲取全文 獲取全文

Lactate infusion as therapeutical intervention: a scoping review 由 van Gemert, Loes A., de Galan, Bastiaan E., Wevers, Ron A., ter Heine, Rob, Willemsen, Michèl A.

獲取全文 獲取全文 獲取全文

GC–MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption 由 Irwin, Cindy, Mienie, Lodewyk J., Wevers, Ron A., Mason, Shayne, Westerhuis, Johan A., van Reenen, Mari, Reinecke, Carolus J.

獲取全文 獲取全文 獲取全文

The (1)H-NMR-based metabolite profile of acute alcohol consumption: A metabolomics intervention study 由 Irwin, Cindy, van Reenen, Mari, Mason, Shayne, Mienie, Lodewyk J., Wevers, Ron A., Westerhuis, Johan A., Reinecke, Carolus J.

獲取全文 獲取全文 獲取全文

Ovarian Cyst Fluid of Serous Ovarian Tumors Contains Large Quantities of the Brain Amino Acid N-acetylaspartate 由 Kolwijck, Eva, Wevers, Ron A., Engelke, Udo F., Woudenberg, Jannes, Bulten, Johan, Blom, Henk J., Massuger, Leon F. A. G.

獲取全文 獲取全文 獲取全文

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) 由 Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.

獲取全文 獲取全文 獲取全文

A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls 由 Malatji, Bontle G., Meyer, Helgard, Mason, Shayne, Engelke, Udo F.H., Wevers, Ron A., van Reenen, Mari, Reinecke, Carolus J.

獲取全文 獲取全文 獲取全文

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... 由 Mason, Shayne, van Furth, A. Marceline, Mienie, Lodewyk J., Engelke, Udo F. H., Wevers, Ron A., Solomons, Regan, Reinecke, Carolus J.

獲取全文 獲取全文 獲取全文