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Systematic literature review and meta-analysis on the epidemiology of propionic acidemia

Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC 6.4.1.3). The primary objective of this study was to conduct a systematic literature review and meta-ana...

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Detalles Bibliográficos
Autores principales: Almási, Tímea, Guey, Lin T., Lukacs, Christine, Csetneki, Kata, Vokó, Zoltán, Zelei, Tamás
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375193/
https://www.ncbi.nlm.nih.gov/pubmed/30760309
http://dx.doi.org/10.1186/s13023-018-0987-z