Výsledky vyhledávání - "pathology [Acidosis, Lactic]"

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

Autor: Sarunas Augustis, Peter Schneiderat, Rita Horvath, Angela Abicht, Thomas Klopstock, Bertold Schrank, Elke Holinski-Feder, Benedikt Schoser

Publikováno v: Neuromuscular disorders 27(5), 473-476 (2017). doi:10.1016/j.nmd.2017.02.005

We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). ACAD9 is an assembly factor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8111bedcc8f47f417f298e789b1e20a
https://pubmed.ncbi.nlm.nih.gov/28279569

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