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...
Main Authors: | Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-02-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-018-0987-z |
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