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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
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Complementation analysis of patients with intact peroxisomes and impaired peroxisomal oxidation
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Standardization of complementation grouping of peroxisome deficient disorders and the second Zellweger syndrome patient with peroxisomal assembly factor-1 (PAF-1) defect
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Phenotype of 173 peroxisome disorder patients subdivided into 16 complementation groups
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Phenotypic heterogeneity in skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group
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Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders
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Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
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Gärtner J, Moser H, Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genet 1992;1:16-23.
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Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant
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Tsukamoto T, Miura S, Fujiki Y. Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. Nature 1991;350:77-81.
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Mutations in the PTSE receptor gene, PXRI, define complementation group 2 in the peroxisome biogenesis disorders
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Dodt G, Braverman N, Wong C, et al. Mutations in the PTSE receptor gene, PXRI, define complementation group 2 in the peroxisome biogenesis disorders. Nature Genet 1995;9:115-25.
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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
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Measurement of saturated very long chain fatty acids in plasma
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Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zelhveger syndrome)
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Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders
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cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional eruyme and localization to chromosome 3q26.3-3q28: a free left Alu arm is inserted in the 3′ noncoding region
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Hoefler G, Forstner M, McGuiness MC, et al. cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional eruyme and localization to chromosome 3q26.3-3q28: a free left Alu arm is inserted in the 3′ noncoding region. Genomics 1994;19:60-7.
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