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23. Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria. Østergaard E; Wibrand F; Ørngreen MC; Vissing J; Horn N Neurology; 2005 Sep; 65(6):931-3. PubMed ID: 16186538 [TBL] [Abstract][Full Text] [Related]
24. Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency. Packman S; Mahoney MJ; Tanaka K; Hsia YE J Pediatr; 1978 May; 92(5):769-71. PubMed ID: 25314 [No Abstract] [Full Text] [Related]
25. 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]
26. Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid. Narasimhan P; Sklar R; Murrell M; Swanson RA; Sharp FR J Neurosci; 1996 Nov; 16(22):7336-46. PubMed ID: 8929440 [TBL] [Abstract][Full Text] [Related]
27. Pathophysiologic study on methylmalonic aciduria: decrease in liver high-energy phosphate after propionate loading in rats. Nakai A; Shigematsu Y; Saito M; Kikawa Y; Sudo M Pediatr Res; 1991 Jul; 30(1):5-10. PubMed ID: 1679919 [TBL] [Abstract][Full Text] [Related]
28. Combined liver-kidney transplantation in methylmalonic acidemia. van 't Hoff WG; Dixon M; Taylor J; Mistry P; Rolles K; Rees L; Leonard JV J Pediatr; 1998 Jun; 132(6):1043-4. PubMed ID: 9627602 [TBL] [Abstract][Full Text] [Related]
29. Methylmalonic Acid Impairs Cell Respiration and Glutamate Uptake in C6 Rat Glioma Cells: Implications for Methylmalonic Acidemia. Costa RT; Santos MB; Alberto-Silva C; Carrettiero DC; Ribeiro CAJ Cell Mol Neurobiol; 2023 Apr; 43(3):1163-1180. PubMed ID: 35674974 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts. Morrow G; Revsin B; Clark R; Lebowitz J; Whelan DT Clin Chim Acta; 1978 Apr; 85(1):67-72. PubMed ID: 25730 [TBL] [Abstract][Full Text] [Related]
32. Possible explanation for hyperglycinaemia in propionic acidaemia and methylmalonic acidaemia: propionate and methylmalonate inhibit liver and brain mitochondrial clycine transport. Ugarte M; Lopez-Lahoya J; Garcia ML; Benavides J; Valdivieso F J Inherit Metab Dis; 1980; 2(4):93-9. PubMed ID: 6796767 [TBL] [Abstract][Full Text] [Related]
33. Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia. Stewart PM; Walser M J Clin Invest; 1980 Sep; 66(3):484-92. PubMed ID: 7400325 [TBL] [Abstract][Full Text] [Related]
34. A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency. van den Berg H; Boelkens MT; Hommes FA Acta Paediatr Scand; 1976 Jan; 65(1):113-8. PubMed ID: 3087 [TBL] [Abstract][Full Text] [Related]
35. Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo. Baumgartner R; Giardini O; Cantani A; Sabetta G; Castro M J Inherit Metab Dis; 1982; 5(3):137-41. PubMed ID: 6133033 [TBL] [Abstract][Full Text] [Related]
37. [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]
38. Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. Crane AM; Martin LS; Valle D; Ledley FD Hum Genet; 1992 May; 89(3):259-64. PubMed ID: 1351030 [TBL] [Abstract][Full Text] [Related]
39. Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. Yamaguchi K; Hirabayashi K; Honma K Clin Neuropathol; 1995; 14(4):216-22. PubMed ID: 8521625 [TBL] [Abstract][Full Text] [Related]
40. Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin. Willard HF; Rosenberg LE Biochem Biophys Res Commun; 1977 Oct; 78(3):927-34. PubMed ID: 20894 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]