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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Scientific and Technological Research Council of Turkey
2021
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| Materias: | |
| 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 |