Disease: Pseudoneonatal adrenoleukodystrophy
- A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
- Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
- Biochemical characterization of two functional human liver acyl-CoA oxidase isoforms 1a and 1b encoded by a single gene
- Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy
- Clinical approach to inherited peroxisomal disorders
- Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency
- Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates
- Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies
- Immunocytochemical localization of acyl-CoA oxidase in the rat central nervous system
- Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy
- Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity
- Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
- Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis
- Peroxisomal acyl CoA oxidase deficiency
- Peroxisomal acyl-CoA oxidase deficiency
- Peroxisomal acyl-CoA-oxidase deficiency: two new cases
- Peroxisomal disorders in neurology
- Peroxisomal hereditary metabolic disorders
- Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders
- Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect
- Prenatal diagnosis in high risk pregnancies for Zellweger syndrome
- Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders
- Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase
- Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder
- Straight-chain acyl-CoA oxidase knockout mouse accumulates extremely long chain fatty acids from alpha-linolenic acid: evidence for runaway carousel-type enzyme kinetics in peroxisomal beta-oxidation diseases
- Targeted disruption of the peroxisomal fatty acyl-CoA oxidase gene: generation of a mouse model of pseudoneonatal adrenoleukodystrophy
- The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy)