Articles with "isolated methylmalonic" as a keyword



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Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.

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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€¦ read more here.

Keywords: methylmalonic acidemia; isolated methylmalonic; review neuropsychological; neuropsychological outcomes ... See more keywords
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Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ

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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€¦ read more here.

Keywords: isolated methylmalonic; itraq; methylmalonic acidemia; mma patients ... See more keywords