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Journal Abstract Search

203 related items for PubMed ID: 1680308

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  • 4. Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.
    Balfe A, Hoefler G, Chen WW, Watkins PA.
    Pediatr Res; 1990 Mar; 27(3):304-10. PubMed ID: 2181395
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  • 5. Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
    Hoefler G, Hoefler S, Watkins PA, Chen WW, Moser A, Baldwin V, McGillivary B, Charrow J, Friedman JM, Rutledge L.
    J Pediatr; 1988 May; 112(5):726-33. PubMed ID: 2452243
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  • 8. Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
    Motley AM, Tabak HF, Smeitink JA, Poll-The BT, Barth PG, Wanders RJ.
    Biochim Biophys Acta; 1996 Apr 12; 1315(3):153-8. PubMed ID: 8611652
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  • 9. Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.
    Heikoop JC, Wanders RJ, Strijland A, Purvis R, Schutgens RB, Tager JM.
    Hum Genet; 1992 Jun 12; 89(4):439-44. PubMed ID: 1618493
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  • 10. Occurrence and possible roles of acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase in peroxisomes of an n-alkane-grown yeast, Candida tropicalis.
    Kurihara T, Ueda M, Tanaka A.
    FEBS Lett; 1988 Feb 29; 229(1):215-8. PubMed ID: 2894324
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  • 14. Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.
    Espeel M, Heikoop JC, Smeitink JA, Beemer FA, De Craemer D, Van den Berg M, Hashimoto T, Wanders RJ, Schutgens RB, Poll-The BT.
    Ultrastruct Pathol; 1993 Feb 29; 17(6):623-36. PubMed ID: 8122328
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  • 16. Transport of fatty acids into human and rat peroxisomes. Differential transport of palmitic and lignoceric acids and its implication to X-adrenoleukodystrophy.
    Singh I, Lazo O, Dhaunsi GS, Contreras M.
    J Biol Chem; 1992 Jul 05; 267(19):13306-13. PubMed ID: 1618832
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  • 17. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.
    Barth PG, Wanders RJ, Schutgens RB, Staalman CR.
    Am J Med Genet; 1996 Mar 15; 62(2):164-8. PubMed ID: 8882397
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  • 18. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.
    Lazo O, Contreras M, Hashmi M, Stanley W, Irazu C, Singh I.
    Proc Natl Acad Sci U S A; 1988 Oct 15; 85(20):7647-51. PubMed ID: 3174658
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  • 19. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
    Purdue PE, Zhang JW, Skoneczny M, Lazarow PB.
    Nat Genet; 1997 Apr 15; 15(4):381-4. PubMed ID: 9090383
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  • 20. Chondrodysplasia punctata with a mild clinical course.
    Nuoffer JM, Pfammatter JP, Spahr A, Toplak H, Wanders RJ, Schutgens RB, Wiesmann UN.
    J Inherit Metab Dis; 1994 Apr 15; 17(1):60-6. PubMed ID: 7914249
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