Curr Opin Neurol. 1996 Dec;9(6):473-6.

Pathogenetic mechanisms in peroxisomal disorders.

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Neurogenetics Research Center, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21205, USA.

Abstract

Advances have been made concerning the pathogenesis of the two major classes of peroxisomal disorders. The gene defect in X-linked adrenoleukodystrophy has been firmly established and therapies are emerging. Complementation analysis has permitted categorization of disorders of peroxisome biogenesis, their molecular basis and mutations are being defined, and new therapies are being explored.

PMID:: 9007408; [PubMed - indexed for MEDLINE]

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Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. [Am J Hum Genet. 2002]
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, et al. Am J Hum Genet. 2002 Jun; 70(6):1520-31. Epub 2002 Apr 29.
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Review Molecular and clinical aspects of peroxisomal diseases. [J Inherit Metab Dis. 2007]
Review Molecular and clinical aspects of peroxisomal diseases.
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Review Molecular genetics of peroxisomal disorders.
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Cited by 1 PubMed Central article

Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. [Mol Cell Biol. 2003]
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.
Maxwell M, Bjorkman J, Nguyen T, Sharp P, Finnie J, Paterson C, Tonks I, Paton BC, Kay GF, Crane DI. Mol Cell Biol. 2003 Aug; 23(16):5947-57.

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Pathogenetic mechanisms in peroxisomal disorders.
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Curr Opin Neurol. 1996 Dec ;9(6):473-6.

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Pathogenetic mechanisms in peroxisomal disorders.

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