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Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE. Waisbren SE. Metab Brain Dis. 2022 Jun;37(5):1317-1335. doi: 10.1007/s11011-022-00954-1. Epub 2022 Mar 29. Metab Brain Dis. 2022. PMID: 35348993 Review.
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsycholog …
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of …
Mouse models for methylmalonic aciduria.
Peters HL, Pitt JJ, Wood LR, Hamilton NJ, Sarsero JP, Buck NE. Peters HL, et al. PLoS One. 2012;7(7):e40609. doi: 10.1371/journal.pone.0040609. Epub 2012 Jul 9. PLoS One. 2012. PMID: 22792386 Free PMC article.
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). ...Partial rescue of the uniform neonatal lethality seen in homozygous knockout mice was observed. …
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect …
Primary structure and activity of mouse methylmalonyl-CoA mutase.
Wilkemeyer MF, Crane AM, Ledley FD. Wilkemeyer MF, et al. Biochem J. 1990 Oct 15;271(2):449-55. doi: 10.1042/bj2710449. Biochem J. 1990. PMID: 1978672 Free PMC article.
Genetic deficiency of this enzyme in man causes an often fatal disorder of organic acid metabolism termed mut methylmalonicacidaemia. ...Mouse MCM in fibroblasts and crude liver extracts exhibits activity and reaction kinetics similar to those o …
Genetic deficiency of this enzyme in man causes an often fatal disorder of organic acid metabolism termed …
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y. Tang C, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 34704419 Free PMC article. English.
A total of 79 cases of IMD were diagnosed, including 23 with aminoacidopathy, 17 with disorder of organic acid metabolism and 39 with fatty acid oxidation disorders, involving 21 diseases. ...A total of 79 cases of IMD were diagnosed, including …
A total of 79 cases of IMD were diagnosed, including 23 with aminoacidopathy, 17 with disorder of organic acid …
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
Jansen R, Ledley FD. Jansen R, et al. Am J Hum Genet. 1990 Nov;47(5):808-14. Am J Hum Genet. 1990. PMID: 1977311 Free PMC article.
Genetic defects in the enzyme methylmalonyl CoA mutase cause a disorder of organic acid metabolism termed "mut methylmalonic acidemia." ...We identified compound heterozygous mutations in a mut0 fibroblast cell (MAS) line by cloning the methylma …
Genetic defects in the enzyme methylmalonyl CoA mutase cause a disorder of organic acid metabolism termed …