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Journal Abstract Search

146 related items for PubMed ID: 7602808

  • 1. [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; 43(6):625-9. PubMed ID: 7602808
    [Abstract] [Full Text] [Related]

  • 2. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
    Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 3.
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  • 4. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
    Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K.
    J Hum Genet; 1999 Feb; 44(1):35-9. PubMed ID: 9929975
    [Abstract] [Full Text] [Related]

  • 5. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
    Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.
    Biochem Genet; 2007 Jun; 45(5-6):421-30. PubMed ID: 17410422
    [Abstract] [Full Text] [Related]

  • 6. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia].
    Wang F, Han L, Ye J, Qiu W, Zhang Y, Gao X, Wang Y, Yang Y, Gu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):485-9. PubMed ID: 19806564
    [Abstract] [Full Text] [Related]

  • 7. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
    Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.
    Mol Genet Metab; 2007 Mar; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

  • 8. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Mar; (18 Pt 1):269-72. PubMed ID: 9590044
    [No Abstract] [Full Text] [Related]

  • 9. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
    Ogasawara M, Matsubara Y, Mikami H, Narisawa K.
    Hum Mol Genet; 1994 Jun; 3(6):867-72. PubMed ID: 7951229
    [Abstract] [Full Text] [Related]

  • 10. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.
    Hum Mutat; 1998 Jun; 11(4):270-4. PubMed ID: 9554742
    [Abstract] [Full Text] [Related]

  • 11. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
    Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.
    Hum Mutat; 2002 Nov; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 12. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
    Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA.
    Proc Natl Acad Sci U S A; 2002 Nov 26; 99(24):15554-9. PubMed ID: 12438653
    [Abstract] [Full Text] [Related]

  • 13. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
    Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.
    Gene; 2016 Jan 15; 576(1 Pt 2):208-13. PubMed ID: 26449400
    [Abstract] [Full Text] [Related]

  • 14. Novel mutations in a Thai patient with methylmalonic acidemia.
    Champattanachai V, Ketudat Cairns JR, Shotelersuk V, Keeratichamroen S, Sawangareetrakul P, Srisomsap C, Kaewpaluek V, Svasti J.
    Mol Genet Metab; 2003 Aug 15; 79(4):300-2. PubMed ID: 12948746
    [Abstract] [Full Text] [Related]

  • 15. [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
    Méndez ST, Vela-Amieva M, Velázquez-Arellano A, Ibarra I, Flores ME.
    Rev Invest Clin; 2012 Aug 15; 64(3):255-61. PubMed ID: 23045948
    [Abstract] [Full Text] [Related]

  • 16. Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.
    Willard HF, Rosenberg LE.
    J Clin Invest; 1980 Mar 15; 65(3):690-8. PubMed ID: 6101601
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 49(2):232-4. PubMed ID: 17445044
    [No Abstract] [Full Text] [Related]

  • 18. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
    Ledley FD.
    Bioessays; 1990 Jul 15; 12(7):335-40. PubMed ID: 1975493
    [Abstract] [Full Text] [Related]

  • 19. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
    Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.
    Hum Mutat; 2006 Jan 15; 27(1):31-43. PubMed ID: 16281286
    [Abstract] [Full Text] [Related]

  • 20. [Diagnosis and treatment of methylmalonic aciduria: a case report].
    Mahfoud A, Domínguez CL, Pérez A, Rizzo C, Merinero B, Pérez B.
    Invest Clin; 2007 Mar 15; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

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