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Pediatric Research|May 11, 2010
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathyJohan L K Van Hove, Margarita S Saenz, Janet A Thomas, et al.
Journal of Inherited Metabolic Disease|July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort studyWillemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.
American Journal of Medical Genetics. Part A|June 7, 2008
Peroxisomal acyl-CoA-oxidase deficiency: two new casesRosalba Carrozzo, Carlo Bellini, Simona Lucioli, et al.
Human Molecular Genetics|August 13, 2013
Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defectsSander M Houten, Hilde Herrema, Heleen Te Brinke, et al.
Molecular Genetics and Metabolism|July 25, 2024
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assayBerith M Balfoort, Gioena Pampalone, Jos P N Ruiter, et al.
American Journal of Human Genetics|December 13, 2006
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegenerationFerence J Loupatty, Peter T Clayton, Jos P N Ruiter, et al.
Molecular Genetics and Metabolism|November 25, 2018
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorderChristos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, et al.
Scientific Reports|February 16, 2022
Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolismMaaike Blankestijn, Vincent W Bloks, Dicky Struik, et al.
Obesity (Silver Spring, Md.)|July 3, 2010
The effects of long- or medium-chain fat diets on glucose tolerance and myocellular content of lipid intermediates in ratsJohan De Vogel-van den Bosch, Joris Hoeks, Silvie Timmers, et al.
Human Genetics|December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skippingPia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.
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