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Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

BACKGROUND/AIM: Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 or mut– enzymatic subtype), a defect of its cofactor adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. W...

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Detalhes bibliográficos
Publicado no:Turk J Med Sci
Main Authors: ŞEKER YILMAZ, Berna, KÖR, Deniz, BULUT, Fatma Derya, KILAVUZ, Sebile, CEYLANER, Serdar, ÖNENLİ MUNGAN, Halise Neslihan
Formato: Artigo
Idioma:Inglês
Publicado em: The Scientific and Technological Research Council of Turkey 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8283478/
https://ncbi.nlm.nih.gov/pubmed/33453710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3906/sag-2001-72
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