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5. [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]
6. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. Lempp TJ; Suormala T; Siegenthaler R; Baumgartner ER; Fowler B; Steinmann B; Baumgartner MR Mol Genet Metab; 2007 Mar; 90(3):284-90. PubMed ID: 17113806 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance. Pulkes T; Liolitsa D; Wills AJ; Hargreaves I; Heales S; Hanna MG Neurology; 2005 Mar; 64(6):1091-2. PubMed ID: 15781840 [No Abstract] [Full Text] [Related]
14. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Laforêt P; Acquaviva-Bourdain C; Rigal O; Brivet M; Penisson-Besnier I; Chabrol B; Chaigne D; Boespflug-Tanguy O; Laroche C; Bedat-Millet AL; Behin A; Delevaux I; Lombès A; Andresen BS; Eymard B; Vianey-Saban C Neuromuscul Disord; 2009 May; 19(5):324-9. PubMed ID: 19327992 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency. Keyfi F; Sankian M; Moghaddassian M; Rolfs A; Varasteh AR Gene; 2016 Jan; 576(1 Pt 2):208-13. PubMed ID: 26449400 [TBL] [Abstract][Full Text] [Related]
18. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene. Darin N; Kollberg G; Moslemi AR; Tulinius M; Holme E; Grönlund MA; Andersson S; Oldfors A Neuromuscul Disord; 2006 Aug; 16(8):504-6. PubMed ID: 16806928 [TBL] [Abstract][Full Text] [Related]
19. Methylmalonic aciduria without vitamin B12 deficiency in an adult sibship. Giorgio AJ; Trowbridge M; Boone AW; Patten RS N Engl J Med; 1976 Aug; 295(6):310-3. PubMed ID: 6909 [TBL] [Abstract][Full Text] [Related]
20. [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] [Next] [New Search]