These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
223 related articles for article (PubMed ID: 12939)
41. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Hörster F; Baumgartner MR; Viardot C; Suormala T; Burgard P; Fowler B; Hoffmann GF; Garbade SF; Kölker S; Baumgartner ER Pediatr Res; 2007 Aug; 62(2):225-30. PubMed ID: 17597648 [TBL] [Abstract][Full Text] [Related]
42. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. Collado MS; Armstrong AJ; Olson M; Hoang SA; Day N; Summar M; Chapman KA; Reardon J; Figler RA; Wamhoff BR Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238 [TBL] [Abstract][Full Text] [Related]
43. Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin. Batshaw ML; Thomas GH; Cohen SR; Matalon R; Mahoney MJ J Inherit Metab Dis; 1984; 7(2):65-8. PubMed ID: 6434828 [TBL] [Abstract][Full Text] [Related]
44. Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism. Wendel U; Baumgartner R; van der Meer SB; Spaapen LJ Pediatr Res; 1991 Apr; 29(4 Pt 1):403-5. PubMed ID: 1852536 [TBL] [Abstract][Full Text] [Related]
45. 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]
46. Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry. Gotoh K; Nakajima Y; Tajima G; Hotta Y; Kataoka T; Kawade Y; Sugiyama N; Ito T; Kimura K; Maeda Y Anal Bioanal Chem; 2015 Jul; 407(18):5281-6. PubMed ID: 26018627 [TBL] [Abstract][Full Text] [Related]
47. The error in the cryptic stereospecificity of methylmalonyl-CoA mutase. The use of carba-(dethia)-coenzyme A substrate analogues gives new insight into the enzyme mechanism. Hull WE; Michenfelder M; Rétey J Eur J Biochem; 1988 Apr; 173(1):191-201. PubMed ID: 2895708 [TBL] [Abstract][Full Text] [Related]
49. Identification and perturbation of mutant human fibroblasts based on measurements of methylmalonic acid and total homocysteine in the culture media. Kolhouse JF; Stabler SP; Allen RH Arch Biochem Biophys; 1993 Jun; 303(2):355-60. PubMed ID: 8099783 [TBL] [Abstract][Full Text] [Related]
51. Quantitative measurement of the error in the cryptic stereospecificity of methylmalonyl-CoA mutase. Michenfelder M; Hull WE; Rétey J Eur J Biochem; 1987 Nov; 168(3):659-67. PubMed ID: 2889598 [TBL] [Abstract][Full Text] [Related]
52. 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]
53. 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]
54. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. Chandler RJ; Aswani V; Tsai MS; Falk M; Wehrli N; Stabler S; Allen R; Sedensky M; Kazazian HH; Venditti CP Mol Genet Metab; 2006; 89(1-2):64-73. PubMed ID: 16843692 [TBL] [Abstract][Full Text] [Related]
56. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia. Kolhouse JF; Utley C; Fenton WA; Rosenberg LE Proc Natl Acad Sci U S A; 1981 Dec; 78(12):7737-41. PubMed ID: 6121323 [TBL] [Abstract][Full Text] [Related]
57. On the mechanism of action of methylmalonyl-CoA mutase. Change of the steric course on isotope substitution. Wölfle K; Michenfelder M; König A; Hull WE; Rétey J Eur J Biochem; 1986 May; 156(3):545-54. PubMed ID: 2870921 [TBL] [Abstract][Full Text] [Related]
58. First trimester diagnosis of methylmalonic aciduria. Fowler B; Giles L; Sardharwalla IB; Donnai P; Clayton JK Prenat Diagn; 1988 Mar; 8(3):207-13. PubMed ID: 2897685 [TBL] [Abstract][Full Text] [Related]
59. Investigation of the mechanism of the methylmalonyl-CoA mutase reaction with the substrate analogue: ethylmalonyl-CoA. Rétey J; Smith EH; Zagalak B Eur J Biochem; 1978 Feb; 83(2):437-51. PubMed ID: 24538 [TBL] [Abstract][Full Text] [Related]
60. Interactions of methylmalonyl CoA mutase from normal human fibroblasts with adenosylcobalamin and methylmalonyl CoA: evidence for non-equivalent active sites. Willard HF; Rosenberg LE Arch Biochem Biophys; 1980 Mar; 200(1):130-9. PubMed ID: 6102452 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]