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Journal Abstract Search

111 related items for PubMed ID: 25314

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  • 4. Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
    Goodman SI, McCabe ER, Fennessey PV, Miles BS, Mace JW, Jellum E.
    Clin Chim Acta; 1978 Aug 01; 87(3):441-9. PubMed ID: 28187
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  • 5. [Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle].
    Kopieczna-Grzebieniak E, Toborek M, Jakubowska D, Tarnawski R.
    Pediatr Pol; 1988 Feb 01; 63(2):129-36. PubMed ID: 2900490
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  • 8. Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.
    Morrow G, Lebowitz J.
    Biochem Med; 1976 Jun 01; 15(3):241-5. PubMed ID: 11786
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  • 11. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.
    Kolhouse JF, Utley C, Fenton WA, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1981 Dec 01; 78(12):7737-41. PubMed ID: 6121323
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  • 12. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Dec 01; (18 Pt 1):269-72. PubMed ID: 9590044
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  • 13. Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.
    Narisawa K, Saito T, Hisa S, Suzuki H, Hayasaka K.
    Tohoku J Exp Med; 1977 Sep 01; 123(1):1-8. PubMed ID: 21471
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  • 15. Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite Brethren.
    Fowlow SB, Holmes TM, Morgan K, Snyder FF.
    Am J Med Genet; 1985 Nov 01; 22(3):513-9. PubMed ID: 2865895
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  • 16. Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin.
    Willard HF, Rosenberg LE.
    Biochem Biophys Res Commun; 1977 Oct 10; 78(3):927-34. PubMed ID: 20894
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  • 17. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.
    Willard HF, Mellman IS, Rosenberg LE.
    Am J Hum Genet; 1978 Jan 10; 30(1):1-13. PubMed ID: 23678
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  • 18. Studies of methylmalonyl coenzyme A carbonylmutase activity in methylmalonic acidemia. I. Correlation of clinical, hepatic, and fibroblast data.
    Morrow G, Mahoney MJ, Mathews C, Lebowitz J.
    Pediatr Res; 1975 Aug 10; 9(8):641-4. PubMed ID: 239382
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  • 19. Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.
    Fenton WA, Hack AM, Kraus JP, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1987 Mar 10; 84(5):1421-4. PubMed ID: 2881300
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  • 20. [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].
    Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H.
    Rinsho Byori; 1995 Jun 10; 43(6):625-9. PubMed ID: 7602808
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