Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Abstract Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and...

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Bibliographic Details
Main Authors: Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang, Ni-Chung Lee
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Biotinidase deficiency
Chinese population
Newborn screening program
Online Access:http://link.springer.com/article/10.1186/s13023-018-0992-2

Internet

http://link.springer.com/article/10.1186/s13023-018-0992-2

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