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Journal Abstract Search


157 related items for PubMed ID: 7914249

  • 1. 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; 17(1):60-6. PubMed ID: 7914249
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  • 2. Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts.
    Singh I, Lazo O, Contreras M, Stanley W, Hashimoto T.
    Arch Biochem Biophys; 1991 Apr; 286(1):277-83. PubMed ID: 1680308
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  • 12. 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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  • 13. Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata.
    Rizzo WB, Craft DA, Judd LL, Moser HW, Moser AB.
    Biochem Med Metab Biol; 1993 Aug 15; 50(1):93-102. PubMed ID: 8373640
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  • 14. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).
    Sztriha L, Al-Gazali LI, Wanders RJ, Ofman R, Nork M, Lestringant GG.
    Dev Med Child Neurol; 2000 Jul 15; 42(7):492-5. PubMed ID: 10972423
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  • 20. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
    Omobono E, Goetsch W.
    Minerva Pediatr; 1993 Mar 15; 45(3):117-21. PubMed ID: 8341225
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