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30. [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]
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32. Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort. Shafaat M; Alaee MR; Rahmanifar A; Setoodeh A; Razzaghy-Azar M; Bagherian H; Bagheri SD; Zafarghandi Motlagh F; Hashemi M; Abiri M; Zeinali S Metab Brain Dis; 2018 Oct; 33(5):1689-1697. PubMed ID: 30022420 [TBL] [Abstract][Full Text] [Related]
33. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. Ledley FD; Crane AM; Lumetta M Am J Hum Genet; 1990 Mar; 46(3):539-47. PubMed ID: 1968706 [TBL] [Abstract][Full Text] [Related]
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37. 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]
38. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. Thomä NH; Leadlay PF Protein Sci; 1996 Sep; 5(9):1922-7. PubMed ID: 8880917 [TBL] [Abstract][Full Text] [Related]
39. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Manoli I; Sysol JR; Li L; Houillier P; Garone C; Wang C; Zerfas PM; Cusmano-Ozog K; Young S; Trivedi NS; Cheng J; Sloan JL; Chandler RJ; Abu-Asab M; Tsokos M; Elkahloun AG; Rosen S; Enns GM; Berry GT; Hoffmann V; DiMauro S; Schnermann J; Venditti CP Proc Natl Acad Sci U S A; 2013 Aug; 110(33):13552-7. PubMed ID: 23898205 [TBL] [Abstract][Full Text] [Related]
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