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25. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts. Wilkemeyer MF; Crane AM; Ledley FD J Clin Invest; 1991 Mar; 87(3):915-8. PubMed ID: 1671869 [TBL] [Abstract][Full Text] [Related]
26. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase. Ledley FD Bioessays; 1990 Jul; 12(7):335-40. PubMed ID: 1975493 [TBL] [Abstract][Full Text] [Related]
27. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. Ledley FD; Jansen R; Nham SU; Fenton WA; Rosenberg LE Proc Natl Acad Sci U S A; 1990 Apr; 87(8):3147-50. PubMed ID: 1970180 [TBL] [Abstract][Full Text] [Related]
28. 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 [TBL] [Abstract][Full Text] [Related]
29. Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector. Wong ES; McIntyre C; Peters HL; Ranieri E; Anson DS; Fletcher JM Hum Gene Ther; 2014 Jun; 25(6):529-38. PubMed ID: 24568291 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient. Touraine RL; Rolland MO; Divry P; Mathieu M; Guibaud P; Bozon D Hum Mutat; 1995; 5(4):354-6. PubMed ID: 7627195 [No Abstract] [Full Text] [Related]
32. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. Almási T; Guey LT; Lukacs C; Csetneki K; Vokó Z; Zelei T Orphanet J Rare Dis; 2019 Apr; 14(1):84. PubMed ID: 31023387 [TBL] [Abstract][Full Text] [Related]
33. [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]
34. 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 [TBL] [Abstract][Full Text] [Related]