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Last Updated: 10/31/2025
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Found 17 publications
Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.
Journal: Brain & development
Published: December 26, 2021
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
Journal: Brain & development
Published: June 12, 2020
The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy).
Journal: Endocrinology
Published: April 18, 2012
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
Journal: American journal of medical genetics. Part A
Published: June 07, 2008
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Journal: Human mutation
Published: April 27, 2007
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.
Journal: Neuropediatrics
Published: June 15, 2006
Peroxisomal hereditary metabolic disorders
Journal: Casopis lekaru ceskych
Published: January 05, 2002
Peroxisomal acyl-CoA oxidase deficiency
Journal: Ryoikibetsu shokogun shirizu
Published: June 30, 1998
Targeted disruption of the peroxisomal fatty acyl-CoA oxidase gene: generation of a mouse model of pseudoneonatal adrenoleukodystrophy.
Journal: Annals of the New York Academy of Sciences
Published: December 27, 1996
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.
Journal: The Journal of clinical investigation
Published: August 01, 1994
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.
Journal: American journal of human genetics
Published: January 01, 1994
Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase.
Journal: Journal of inherited metabolic disease
Published: January 01, 1991
Last Updated: 10/31/2025