Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

BACKGROUND: Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin‐dependent carboxylase functions. METHODS: A Chinese patient with sponta...

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Detalles Bibliográficos
Autores principales: Geng, Jia, Sun, Yi, Zhao, Yi, Xiong, Wenyu, Zhong, Mingjun, Zhang, Yajuan, Zhao, Qiuling, Bao, Zhongwei, Cheng, Jing, Lu, Yu, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077094/
https://www.ncbi.nlm.nih.gov/pubmed/33452876
http://dx.doi.org/10.1002/mgg3.1591

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077094/
https://www.ncbi.nlm.nih.gov/pubmed/33452876
http://dx.doi.org/10.1002/mgg3.1591

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