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Journal of Inherited Metabolic Disease|April 9, 2008
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a reviewM F B Silva, C C P Aires, P B M Luis, et al.
Biochimica Et Biophysica Acta|August 21, 2007
Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylationPaula B M Luís, Jos P N Ruiter, Cátia C P Aires, et al.
American Journal of Human Genetics|March 6, 2003
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor geneHans R Waterham, Janet Koster, Petra Mooyer, et al.
Bioinformatics (Oxford, England)|August 12, 2008
Organization and integration of biomedical knowledge with concept maps for key peroxisomal pathwaysA M Willemsen, G A Jansen, J C Komen, et al.
EMBO Molecular Medicine|February 19, 2010
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophyRob Ofman, Inge M E Dijkstra, Carlo W T van Roermund, et al.
Molecular Genetics and Metabolism|February 17, 2017
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiencyJirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, et al.
FEBS Letters|September 9, 2008
Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranesCátia C P Aires, Graça Soveral, Paula B M Luís, et al.
Neurology|March 29, 2006
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctataA M Bams-Mengerink, C B L M Majoie, M Duran, et al.
American Journal of Human Genetics|May 7, 2002
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional proteinS Ferdinandusse, E G van Grunsven, W Oostheim, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
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