“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages are performed. Isovaleric aciduria is an orga...

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Bibliographic Details

Published in:	Journal of Pediatric Research
Main Authors:	Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu
Format:	Article
Language:	English
Published:	Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
Subjects:	Inborn erors of metabolism Niemann-Pick Type C isovaleric aciduria consanguinity
Online Access:	http://jpedres.org/archives/archive-detail/article-preview/double-hit-homozygous-mutations-for-two-different-/18777