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9. 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]
10. 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]
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; 16(2):179. PubMed ID: 10923046 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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 [TBL] [Abstract][Full Text] [Related]
14. [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]
15. 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]
16. Benign methylmalonic aciduria. Ledley FD; Levy HL; Shih VE; Benjamin R; Mahoney MJ N Engl J Med; 1984 Oct; 311(16):1015-8. PubMed ID: 6148691 [TBL] [Abstract][Full Text] [Related]
17. 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; 65(3):690-8. PubMed ID: 6101601 [TBL] [Abstract][Full Text] [Related]
20. Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China. Han B; Nie W; Sun M; Liu Y; Cao Z Pediatr Neonatol; 2020 Apr; 61(2):148-154. PubMed ID: 31466887 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]