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Journal Abstract Search

334 related items for PubMed ID: 10923046

  • 21. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.
    Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391
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  • 22. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
    Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON.
    Mol Genet Metab; 2001 May; 73(1):107-10. PubMed ID: 11350191
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  • 26. N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.
    Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J.
    Eur J Hum Genet; 2001 Aug; 9(8):577-82. PubMed ID: 11528502
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  • 27. Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
    Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N.
    Neurology; 2005 Sep 27; 65(6):931-3. PubMed ID: 16186538
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  • 29. 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 27; 65(3):690-8. PubMed ID: 6101601
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  • 32. 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
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  • 33. 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 02; 79(4):300-2. PubMed ID: 12948746
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  • 34. 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 02; 22(3):513-9. PubMed ID: 2865895
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  • 35. 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
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  • 36. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
    Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.
    Pediatr Res; 2007 Aug 15; 62(2):225-30. PubMed ID: 17597648
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  • 37. 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
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  • 39. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
    Thomä NH, Leadlay PF.
    Protein Sci; 1996 Sep 15; 5(9):1922-7. PubMed ID: 8880917
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  • 40. Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.
    Benoist JF, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon JP, Porquet D, Elion J.
    Mol Genet Metab; 2001 Feb 15; 72(2):181-4. PubMed ID: 11161845
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