J Pediatr. 2002 Jan;140(1):128-30.

Peroxisomal acyl CoA oxidase deficiency.

Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N.

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Department of Pediatrics and Medical Education Development Center, Gifu University School of Medicine, Japan.

Abstract

Three Japanese patients with peroxisomal acyl coenzyme A oxidase deficiency who manifested psychomotor retardation and regression during the late infantile period showed characteristic patterns of demyelination in the ponto- medullary corticospinal tracts and in the cerebellar and cerebral white matter. Molecular investigations revealed 2 novel missense mutations, M278V and G178C.

PMID:: 11815777; [PubMed - indexed for MEDLINE]

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Acyl Coenzyme A

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Peroxisomal acyl-CoA-oxidase deficiency: two new cases. [Am J Med Genet A. 2008]
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Cited by 2 PubMed Central articles

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