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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| 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 |