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Journal Abstract Search

234 related items for PubMed ID: 17445044

  • 1. 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; 49(2):232-4. PubMed ID: 17445044
    [No 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. 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; 79(4):300-2. PubMed ID: 12948746
    [Abstract] [Full Text] [Related]

  • 4. Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
    Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL.
    Biochem Biophys Res Commun; 2012 Nov 02; 427(4):753-7. PubMed ID: 23041189
    [Abstract] [Full Text] [Related]

  • 5. Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe.
    Bender C, Büchler A, Baumgartner R, Konecki DS, Trefz FK.
    Eur J Pediatr; 1994 Jun 02; 153(6):468. PubMed ID: 7916290
    [No Abstract] [Full Text] [Related]

  • 6. 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 Jun 02; 44(1):35-9. PubMed ID: 9929975
    [Abstract] [Full Text] [Related]

  • 7. Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.
    Buck NE, Dashnow H, Pitt JJ, Wood LR, Peters HL.
    PLoS One; 2012 Jun 02; 7(9):e44974. PubMed ID: 23024777
    [Abstract] [Full Text] [Related]

  • 8. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Jun 02; (18 Pt 1):269-72. PubMed ID: 9590044
    [No Abstract] [Full Text] [Related]

  • 9. [Methylmalonic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr 02; 33(5):579-84. PubMed ID: 2908397
    [No Abstract] [Full Text] [Related]

  • 10. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
    Ledley FD, Crane AM, Lumetta M.
    Am J Hum Genet; 1990 Mar 02; 46(3):539-47. PubMed ID: 1968706
    [Abstract] [Full Text] [Related]

  • 11. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
    Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F.
    Hum Mutat; 2000 Aug 02; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 12. 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 02; 123(1):1-8. PubMed ID: 21471
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 87(8):3147-50. PubMed ID: 1970180
    [Abstract] [Full Text] [Related]

  • 14. 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 02; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

  • 15. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
    Crane AM, Ledley FD.
    Am J Hum Genet; 1994 Jul 02; 55(1):42-50. PubMed ID: 7912889
    [Abstract] [Full Text] [Related]

  • 16. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
    Ledley FD.
    Bioessays; 1990 Jul 02; 12(7):335-40. PubMed ID: 1975493
    [Abstract] [Full Text] [Related]

  • 17. 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 02; 3(6):867-72. PubMed ID: 7951229
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 45(5-6):421-30. PubMed ID: 17410422
    [Abstract] [Full Text] [Related]

  • 19. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
    Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.
    Mol Genet Metab; 2016 Aug 02; 118(4):264-71. PubMed ID: 27233228
    [Abstract] [Full Text] [Related]

  • 20. Isolated methylmalonic acidemia: a case report.
    Es Sadki T, Badiou S, Boubal M, Baleine J, Sieso V, Vallat C, Cristol JP, Vianey-Saban C, Cambonie G.
    Ann Biol Clin (Paris); 2016 Aug 01; 74(4):472-6. PubMed ID: 27492701
    [Abstract] [Full Text] [Related]

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