Concepedia

Straight‐chain acyl‐CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic‐type regression and a selective pattern of leukodystrophy

M. A. Kurian, Stephanie Ryan, G. T. N. Besley, Ronald J. A. Wanders, Marissa King

Journal of Inherited Metabolic Disease · 2004 · 33 citations · 6 references

DOI

Concepts

Abstract

We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.

References

6

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12‐q13.1: Part 1

Ann E. Pulver, Maria Karayiorgou, Paula Wolyniec et al. · American Journal of Medical Genetics · 1994 · 382 citations · Full text

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Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Sacha Ferdinandusse, Peter T. Clayton, John T. Allen et al. · Nature Genetics · 2000 · 255 citations

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Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Sacha Ferdinandusse, Simone Denis, Peter T. Clayton et al. · Biochemical Society Transactions · 2001 · 192 citations

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Distinction between peroxisomal bifunctional enzyme and acyl‐CoA oxidase deficiencies

Paul A. Watkins, Martina C. McGuinness, Gerald V. Raymond et al. · Annals of Neurology · 1995 · 93 citations

, , +16