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

Abstract 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...

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Autors principals:	Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2019-02-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	Inherited metabolic disorder Propionic acidemia Epidemiology Systematic literature review Meta-analysis Newborn screening
Accés en línia:	http://link.springer.com/article/10.1186/s13023-018-0987-z
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