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American Journal of Human Genetics|November 14, 2007
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapyS Gobin-Limballe, F Djouadi, F Aubey, et al.
Neurology|February 21, 2014
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencingMatthew A Lines, Rebekah Jobling, Lauren Brady, et al.
Human Molecular Genetics|August 14, 2003
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctataPedro Brites, Alison M Motley, Pierre Gressens, et al.
Orphanet Journal of Rare Diseases|December 5, 2013
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenaseSacha Ferdinandusse, Hans R Waterham, Simon J R Heales, et al.
The Journal of Clinical Investigation|April 26, 2014
Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelinationTiago Ferreira da Silva, Jessica Eira, André T Lopes, et al.
NMR in Biomedicine|March 17, 2006
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolismUdo F H Engelke, Berry Kremer, Leo A J Kluijtmans, et al.
American Journal of Medical Genetics. Part A|April 21, 2004
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patientsBwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, et al.
Proteomics|May 17, 2012
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiencyMurtada H Farhoud, Leo G Nijtmans, Ronald J A Wanders, et al.
Biochimica Et Biophysica Acta|May 26, 2009
Mitochondrial long chain fatty acid beta-oxidation in man and mouseMalika Chegary, Heleen te Brinke, Jos P N Ruiter, et al.
European Journal of Cancer (Oxford, England : 1990)|February 25, 2019
Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patientsI R N Verly, R Leen, J R Meinsma, et al.
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