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

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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Bibliographic Details
Main Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Inherited metabolic disorder
Propionic acidemia
Epidemiology
Systematic literature review
Meta-analysis
Newborn screening
Online Access:http://link.springer.com/article/10.1186/s13023-018-0987-z

Internet

http://link.springer.com/article/10.1186/s13023-018-0987-z

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