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7. 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; 27(1):31-43. PubMed ID: 16281286 [TBL] [Abstract][Full Text] [Related]
8. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Martínez MA; Rincón A; Desviat LR; Merinero B; Ugarte M; Pérez B Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192 [TBL] [Abstract][Full Text] [Related]
9. [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 [TBL] [Abstract][Full Text] [Related]
10. 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 [TBL] [Abstract][Full Text] [Related]
11. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. Lerner-Ellis JP; Gradinger AB; Watkins D; Tirone JC; Villeneuve A; Dobson CM; Montpetit A; Lepage P; Gravel RA; Rosenblatt DS Mol Genet Metab; 2006 Mar; 87(3):219-25. PubMed ID: 16410054 [TBL] [Abstract][Full Text] [Related]
12. [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; 64(3):255-61. PubMed ID: 23045948 [TBL] [Abstract][Full Text] [Related]
13. 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; 44(1):35-9. PubMed ID: 9929975 [TBL] [Abstract][Full Text] [Related]
14. [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; 48(1):99-105. PubMed ID: 17432548 [TBL] [Abstract][Full Text] [Related]
15. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). Gradinger AB; Bélair C; Worgan LC; Li CD; Lavallée J; Roquis D; Watkins D; Rosenblatt DS Hum Mutat; 2007 Oct; 28(10):1045. PubMed ID: 17823972 [TBL] [Abstract][Full Text] [Related]
16. 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; 118(4):264-71. PubMed ID: 27233228 [TBL] [Abstract][Full Text] [Related]
17. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Dobson CM; Gradinger A; Longo N; Wu X; Leclerc D; Lerner-Ellis J; Lemieux M; Belair C; Watkins D; Rosenblatt DS; Gravel RA Mol Genet Metab; 2006 Aug; 88(4):327-33. PubMed ID: 16697227 [TBL] [Abstract][Full Text] [Related]
18. [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 [TBL] [Abstract][Full Text] [Related]
20. 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; 99(24):15554-9. PubMed ID: 12438653 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]