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Journal Abstract Search

150 related items for PubMed ID: 9590044

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  • 3. [Acidemia, methylmalonic].
    Matsubara Y.
    Ryoikibetsu Shokogun Shirizu; 2001; (33):97-9. PubMed ID: 11462735
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  • 4. 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
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  • 5. [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
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  • 6. Brain damage by mild metabolic derangements in methylmalonic acidemia.
    Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Wu AS, Chen LC, Hsu LW, Tseng SC, Hwu WL.
    Pediatr Neurol; 2008 Nov; 39(5):325-9. PubMed ID: 18940555
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  • 9. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
    Ledley FD.
    Bioessays; 1990 Jul; 12(7):335-40. PubMed ID: 1975493
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  • 10. Gene symbol: MUT. Disease: Methylmalonic aciduria.
    Chang H.
    Hum Genet; 2005 Jul; 117(2-3):299. PubMed ID: 16156030
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  • 11. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
    Kaplan P, Ficicioglu C, Mazur AT, Palmieri MJ, Berry GT.
    Mol Genet Metab; 2006 Aug; 88(4):322-6. PubMed ID: 16750411
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  • 12. 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
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  • 13. 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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  • 15. 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 Sep 27; 44(1):35-9. PubMed ID: 9929975
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  • 16. 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 27; 16(2):179. PubMed ID: 10923046
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  • 20. 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 Aug 27; 11(4):270-4. PubMed ID: 9554742
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