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Journal Abstract Search

138 related items for PubMed ID: 540014

  • 1. 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; 17(7-8):709-13. PubMed ID: 540014
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  • 3. Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
    Saunders ME, Sherwood WG, Duthie M, Surh L, Gravel RA.
    Am J Hum Genet; 1982 Jul; 34(4):590-601. PubMed ID: 7102675
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  • 4. Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
    Feldman GL, Hsia YE, Wolf B.
    Am J Hum Genet; 1981 Sep; 33(5):692-701. PubMed ID: 6794361
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  • 6. Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation.
    Bartlett K, Ng H, Dale G, Green A, Leonard JV.
    J Inherit Metab Dis; 1981 Sep; 4(4):183-9. PubMed ID: 6118468
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  • 9. 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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  • 10. Differential effects of biotin deficiency and replenishment on rat liver pyruvate and propionyl-CoA carboxylases and on their mRNAs.
    Rodríguez-Meléndez R, Pérez-Andrade ME, Díaz A, Deolarte A, Camacho-Arroyo I, Cicerón I, Ibarra I, Velázquez A.
    Mol Genet Metab; 1999 Jan 28; 66(1):16-23. PubMed ID: 9973543
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  • 11. 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 28; 64(6):1695-702. PubMed ID: 115903
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  • 12. Stimulation of propionyl CoA and beta-methylcrotonyl CoA carboxylase activities in human leukocytes and cultured fibroblasts by biotin.
    Wolf B, Rosenberg LE.
    Pediatr Res; 1979 Nov 28; 13(11):1275-9. PubMed ID: 514693
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  • 13. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
    Lamhonwah AM, Leclerc D, Loyer M, Clarizio R, Gravel RA.
    Genomics; 1994 Feb 28; 19(3):500-5. PubMed ID: 8188292
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  • 18. 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 28; 68(6):1491-5. PubMed ID: 6798072
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  • 19. Human propionyl CoA carboxylase: some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia.
    Hsia YE, Scully KJ, Rosenberg LE.
    Pediatr Res; 1979 Jun 28; 13(6):746-51. PubMed ID: 481943
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  • 20. Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups.
    Wolf B, Rosenberg LE.
    J Clin Invest; 1978 Nov 28; 62(5):931-6. PubMed ID: 711858
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