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Journal Abstract Search

169 related items for PubMed ID: 6121323

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  • 2. 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; 84(5):1421-4. PubMed ID: 2881300
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  • 7. A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency.
    van den Berg H, Boelkens MT, Hommes FA.
    Acta Paediatr Scand; 1976 Jan; 65(1):113-8. PubMed ID: 3087
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  • 8. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
    Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1990 Apr; 87(8):3147-50. PubMed ID: 1970180
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  • 9. Methylmalonic acidemia.
    Matsuda I, Terashima T, Yamamoto J, Akaboshi I, Shinozuka S, Hattori S, Nagata N, Oka Y.
    Eur J Pediatr; 1978 Jul 03; 128(3):181-6. PubMed ID: 27367
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  • 13. 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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  • 15. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
    Crane AM, Ledley FD.
    Am J Hum Genet; 1994 Jul 10; 55(1):42-50. PubMed ID: 7912889
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  • 18. Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.
    Wilcken B, Kilham HA, Faull K.
    J Pediatr; 1977 Sep 10; 91(3):428-30. PubMed ID: 19569
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  • 19. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.
    Wilkemeyer MF, Crane AM, Ledley FD.
    J Clin Invest; 1991 Mar 10; 87(3):915-8. PubMed ID: 1671869
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  • 20. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
    Oyama C, Takahashi T, Matsumori M, Shoji Y, Tajima G, Sakura N, Hasegawa Y, Yamaguchi S, Kakinuma H, Takada G.
    Pediatr Int; 2007 Apr 10; 49(2):232-4. PubMed ID: 17445044
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