Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

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 phenotyp...

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Detalles Bibliográficos
Autores principales: Hsu, Rai-Hseng, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Chang, I-Fan, Ho, Hui-Chen, Chou, Shi-Ping, Huang, Tzu-Ming, Lee, Ni-Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323711/
https://www.ncbi.nlm.nih.gov/pubmed/30616616
http://dx.doi.org/10.1186/s13023-018-0992-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323711/
https://www.ncbi.nlm.nih.gov/pubmed/30616616
http://dx.doi.org/10.1186/s13023-018-0992-2

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