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Journal Abstract Search

215 related items for PubMed ID: 858206

  • 1. Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.
    Weyler W, Sweetman L, Maggio DC, Nyhan WL.
    Clin Chim Acta; 1977 May 02; 76(3):321-8. PubMed ID: 858206
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  • 2. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
    Burri BJ, Sweetman L, Nyhan WL.
    J Clin Invest; 1981 Dec 02; 68(6):1491-5. PubMed ID: 6798072
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  • 3. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
    Bartlett K, Ng H, Leonard JV.
    Clin Chim Acta; 1980 Jan 15; 100(2):183-6. PubMed ID: 6766095
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  • 4. Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.
    Saunders M, Sweetman L, Robinson B, Roth K, Cohn R, Gravel RA.
    J Clin Invest; 1979 Dec 15; 64(6):1695-702. PubMed ID: 115903
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  • 9. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
    Sherwood WG, Saunders M, Robinson BH, Brewster T, Gravel RA.
    J Pediatr; 1982 Oct 15; 101(4):546-50. PubMed ID: 6811711
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  • 13. Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases.
    Wolf B.
    Biochem Genet; 1979 Aug 15; 17(7-8):709-13. PubMed ID: 540014
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  • 14. Biotin activation of carboxylase activity in cultured fibroblasts from a child with a combined carboxylase defect.
    Bartlett K, Gompertz D.
    Clin Chim Acta; 1978 Mar 15; 84(3):399-401. PubMed ID: 639329
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  • 15. Essential arginine residues in the active sites of propionyl CoA carboxylase and beta-methylcrotonyl CoA carboxylase.
    Wolf B, Kalousek F, Rosenberg LE.
    Enzyme; 1979 Mar 15; 24(5):302-6. PubMed ID: 510274
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  • 18. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
    Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R.
    Pediatr Res; 1997 May 15; 41(5):666-73. PubMed ID: 9128289
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  • 20. Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia.
    McKeon C, Eanes RZ, Fall RR, Tasset DM, Wolf B.
    Clin Chim Acta; 1980 Feb 28; 101(2-3):217-33. PubMed ID: 6766827
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