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Journal Abstract Search

223 related items for PubMed ID: 7541833

  • 1. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
    Moser AB, Rasmussen M, Naidu S, Watkins PA, McGuinness M, Hajra AK, Chen G, Raymond G, Liu A, Gordon D.
    J Pediatr; 1995 Jul; 127(1):13-22. PubMed ID: 7541833
    [Abstract] [Full Text] [Related]

  • 2. Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
    Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ.
    J Cell Sci; 1995 May; 108 ( Pt 5)():1817-29. PubMed ID: 7544797
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  • 3. [Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].
    Molzer B, Stöckler S, Bernheimer H.
    Wien Klin Wochenschr; 1992 May; 104(21):665-70. PubMed ID: 1282286
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  • 4. Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.
    Roscher AA, Hoefler S, Hoefler G, Paschke E, Paltauf F, Moser A, Moser H.
    Pediatr Res; 1989 Jul; 26(1):67-72. PubMed ID: 2475849
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  • 5. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
    Poll-The BT, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM.
    Hum Genet; 1989 Jan; 81(2):175-81. PubMed ID: 2463966
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  • 10. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.
    Shimozawa N, Suzuki Y, Orii T, Moser A, Moser HW, Wanders RJ.
    Am J Hum Genet; 1993 Apr; 52(4):843-4. PubMed ID: 7681622
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  • 11. [Clinical biochemical and genetic aspects of peroxisome-deficient disorders].
    Suzuki Y.
    No To Hattatsu; 1992 Mar; 24(2):194-7. PubMed ID: 1373633
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  • 15. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
    Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y.
    J Biol Chem; 2006 Jan 20; 281(3):1317-23. PubMed ID: 16257970
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  • 16. Molecular analysis of peroxisomal beta-oxidation enzymes in infants with peroxisomal disorders indicates heterogeneity of the primary defect.
    Guerroui S, Aubourg P, Chen WW, Hashimoto T, Scotto J.
    Biochem Biophys Res Commun; 1989 May 30; 161(1):242-51. PubMed ID: 2471528
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  • 17. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
    Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y.
    Biochem J; 2001 Jul 15; 357(Pt 2):417-26. PubMed ID: 11439091
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  • 18. Peroxisomal disorders: clinical commentary and future prospects.
    Wilson GN, Holmes RD, Hajra AK.
    Am J Med Genet; 1988 Jul 15; 30(3):771-92. PubMed ID: 2461077
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  • 19. Complementation analysis of peroxisomal disorders and classical Refsum.
    Poll-The BT, Skjeldal OH, Stokke O, Demaugre F, Saudubray JM.
    Prog Clin Biol Res; 1990 Jul 15; 321():537-43. PubMed ID: 1691507
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