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Human Mutation|May 2, 2000
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skippingH Watanabe, K E Orii, T Fukao, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 29, 1999
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidationM J Bennett, S D Spotswood, K F Ross, et al.
Biochemical and Biophysical Research Communications|June 6, 2006
Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brainN A Oey, J P N Ruiter, L Ijlst, et al.
European Journal of Pediatrics|January 1, 1991
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatmentM Duran, R J Wanders, J P de Jager, et al.
The Journal of Clinical Investigation|September 17, 1998
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationJ A Ibdah, I Tein, C Dionisi-Vici, et al.
Biochemical and Biophysical Research Communications|February 13, 2001
Functional analysis of mutant human carnitine acylcarnitine translocases in yeastL IJlst, C W van Roermund, V Iacobazzi, et al.
Biochimica Et Biophysica Acta|May 7, 2013
Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate estersM Dercksen, L IJlst, M Duran, et al.
Journal of Inherited Metabolic Disease|February 22, 2012
Clinical variability of isovaleric acidemia in a genetically homogeneous populationM Dercksen, M Duran, L Ijlst, et al.
American Journal of Human Genetics|December 18, 1997
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patientM Huizing, V Iacobazzi, L Ijlst, et al.
Nederlands Tijdschrift Voor Geneeskunde|August 22, 2008
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]B T van Maldegem, M Duran, R J A Wanders, et al.
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