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Journal Abstract Search

173 related items for PubMed ID: 2865895

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  • 10. 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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  • 12. A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.
    Mamlok RJ, Isenberg JN, Rassin DK, Norcross K, Tallan HH.
    Neuropediatrics; 1986 May; 17(2):94-9. PubMed ID: 2873525
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  • 14. 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 May; 11(4):270-4. PubMed ID: 9554742
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  • 20. Methylmalonic and propionic aciduria.
    Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C.
    Am J Med Genet C Semin Med Genet; 2006 May 15; 142C(2):104-12. PubMed ID: 16602092
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