MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid

Methylmalonic aciduria (MMA-uria) is seen in several inborn errors of metabolism (IEM) affecting intracellular cobalamin pathways. Methylmalonyl-CoA epimerase (MCE) is an enzyme involved in the mitochondrial cobalamin-dependent pathway generating succinyl-CoA. Homozygous mutations in the correspondi...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: Andréasson, Mattias, Zetterström, Rolf H., von Döbeln, Ulrika, Wedell, Anna, Svenningsson, Per
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2019
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6600349/
https://ncbi.nlm.nih.gov/pubmed/31146325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20112631
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