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Journal Abstract Search

289 related items for PubMed ID: 2365812

  • 1. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
    Heikoop JC, van Roermund CW, Just WW, Ofman R, Schutgens RB, Heymans HS, Wanders RJ, Tager JM.
    J Clin Invest; 1990 Jul; 86(1):126-30. PubMed ID: 2365812
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.
    Heikoop JC, Van den Berg M, Strijland A, Weijers PJ, Schutgens RB, Just WW, Wanders RJ, Tager JM.
    Biochim Biophys Acta; 1991 Jul 26; 1097(1):62-70. PubMed ID: 1677591
    [Abstract] [Full Text] [Related]

  • 4. 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 26; 286(1):277-83. PubMed ID: 1680308
    [Abstract] [Full Text] [Related]

  • 5. 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 26; 89(4):439-44. PubMed ID: 1618493
    [Abstract] [Full Text] [Related]

  • 6. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
    Schram AW, Goldfischer S, van Roermund CW, Brouwer-Kelder EM, Collins J, Hashimoto T, Heymans HS, van den Bosch H, Schutgens RB, Tager JM.
    Proc Natl Acad Sci U S A; 1987 Apr 26; 84(8):2494-6. PubMed ID: 2882519
    [Abstract] [Full Text] [Related]

  • 7. Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts.
    Heikoop JC, Ossendorp BC, Wanders RJ, Wirtz KW, Tager JM.
    FEBS Lett; 1992 Mar 09; 299(2):201-4. PubMed ID: 1347505
    [Abstract] [Full Text] [Related]

  • 8. Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.
    Aubourg P, Kremser K, Roland MO, Rocchiccioli F, Singh I.
    Pediatr Res; 1993 Sep 09; 34(3):270-6. PubMed ID: 7510868
    [Abstract] [Full Text] [Related]

  • 9. Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.
    Suzuki Y, Shimozawa N, Izai K, Uchida Y, Miura K, Akatsuka H, Nagaya M, Yamaguchi S, Orii T.
    J Inherit Metab Dis; 1993 Sep 09; 16(5):868-71. PubMed ID: 8295403
    [No Abstract] [Full Text] [Related]

  • 10. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.
    Emami S, Rizzo WB, Hanley KP, Taylor JM, Goldyne ME, Williams ML.
    Arch Dermatol; 1992 Sep 09; 128(9):1213-22. PubMed ID: 1519936
    [Abstract] [Full Text] [Related]

  • 11. 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 09; 112(5):726-33. PubMed ID: 2452243
    [Abstract] [Full Text] [Related]

  • 12. Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
    Clayton PT, Patel E, Lawson AM, Carruthers RA, Collins J.
    J Clin Invest; 1990 Apr 09; 85(4):1267-73. PubMed ID: 2318981
    [Abstract] [Full Text] [Related]

  • 13. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
    Barr DG, Kirk JM, al Howasi M, Wanders RJ, Schutgens RB.
    Arch Dis Child; 1993 Mar 09; 68(3):415-7. PubMed ID: 8466247
    [Abstract] [Full Text] [Related]

  • 14. 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 09; 15(4):381-4. PubMed ID: 9090383
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
    Hebestreit H, Wanders RJ, Schutgens RB, Espeel M, Kerckaert I, Roels F, Schmausser B, Schrod L, Marx A.
    Eur J Pediatr; 1996 Dec 12; 155(12):1035-9. PubMed ID: 8956940
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 18. Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
    Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T.
    J Clin Invest; 1988 Mar 15; 81(3):813-7. PubMed ID: 2893809
    [Abstract] [Full Text] [Related]

  • 19. The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes.
    Miyazawa S, Osumi T, Hashimoto T.
    Eur J Biochem; 1980 Feb 15; 103(3):589-96. PubMed ID: 6766863
    [Abstract] [Full Text] [Related]

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