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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Detalles Bibliográficos
Autores principales: ŞEKER YILMAZ, Berna, KÖR, Deniz, BULUT, Fatma Derya, KILAVUZ, Sebile, CEYLANER, Serdar, ÖNENLİ MUNGAN, Halise Neslihan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Scientific and Technological Research Council of Turkey 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283478/
https://www.ncbi.nlm.nih.gov/pubmed/33453710
http://dx.doi.org/10.3906/sag-2001-72

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283478/
https://www.ncbi.nlm.nih.gov/pubmed/33453710
http://dx.doi.org/10.3906/sag-2001-72

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