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Published in 2022 at "Metabolic brain disease"
DOI: 10.1007/s11011-022-00954-1
Abstract: 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 neuropsychological deficits. "Isolated" MMA refers to the presenceā¦
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Keywords:
methylmalonic acidemia;
isolated methylmalonic;
review neuropsychological;
neuropsychological outcomes ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.765637
Abstract: Isolated methylmalonic acidemia (MMA) is an inherited organic acid metabolic disorder in an autosomal recessive manner, caused by mutations in the methylmalonyl coenzyme A mutase gene, and the isolated MMA patients often suffer from multi-organā¦
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Keywords:
isolated methylmalonic;
itraq;
methylmalonic acidemia;
mma patients ... See more keywords