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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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| Publicado no: | Turk J Med Sci |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Scientific and Technological Research Council of Turkey
2021
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| 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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