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2. 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]
3. [Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle]. Kopieczna-Grzebieniak E; Toborek M; Jakubowska D; Tarnawski R Pediatr Pol; 1988 Feb; 63(2):129-36. PubMed ID: 2900490 [No Abstract] [Full Text] [Related]
4. 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]
5. Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency. Goodman SI; McCabe ER; Fennessey PV; Miles BS; Mace JW; Jellum E Clin Chim Acta; 1978 Aug; 87(3):441-9. PubMed ID: 28187 [TBL] [Abstract][Full Text] [Related]
6. Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin. Morrow G; Lebowitz J Biochem Med; 1976 Jun; 15(3):241-5. PubMed ID: 11786 [No Abstract] [Full Text] [Related]
8. Nursing care study: an error of metabolism. Martin S Nurs Mirror; 1983 Nov; 157(19):29-30. PubMed ID: 6139789 [No Abstract] [Full Text] [Related]
9. Hyperammonemia: the silent killer. Miga DE; Roth KS South Med J; 1993 Jul; 86(7):742-7. PubMed ID: 8322080 [TBL] [Abstract][Full Text] [Related]
10. Neonatal isovaleric acidemia associated with hyperammonemia. Yoshino M; Yoshida I; Yamashita F; Mori M; Uchiyama C; Tatibana M Adv Exp Med Biol; 1982; 153():141-6. PubMed ID: 6897695 [No Abstract] [Full Text] [Related]
11. Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. Fenton WA; Hack AM; Kraus JP; Rosenberg LE Proc Natl Acad Sci U S A; 1987 Mar; 84(5):1421-4. PubMed ID: 2881300 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. [Hyperammonemia due to ornithine transcarbamylase deficiency--a cause of lethal metabolic crisis during the newborn period and infancy (author's transl)]. Schuchmann L; Colombo JP; Fischer H Klin Padiatr; 1980 May; 192(3):281-5. PubMed ID: 7191930 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer. Sawada T; Ledley FD Somat Cell Mol Genet; 1992 Nov; 18(6):507-16. PubMed ID: 1363156 [TBL] [Abstract][Full Text] [Related]
17. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant. Willard HF; Mellman IS; Rosenberg LE Am J Hum Genet; 1978 Jan; 30(1):1-13. PubMed ID: 23678 [No Abstract] [Full Text] [Related]
18. 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]
19. Treatment of a methylmalonyl-CoA mutase stopcodon mutation. Buck NE; Wood LR; Hamilton NJ; Bennett MJ; Peters HL Biochem Biophys Res Commun; 2012 Nov; 427(4):753-7. PubMed ID: 23041189 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]