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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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| Publicado no: | Orphanet J Rare Dis |
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| Principais autores: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323711/ https://ncbi.nlm.nih.gov/pubmed/30616616 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0992-2 |
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