Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study

PURPOSE: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene. This study aims to investigate the phenotypic and genotypic features of VDDR1A children in southern China and evaluate the long-term therapeutic effects. METHODS: Tw...

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Detalles Bibliográficos
Autores principales: Lin, Yunting, Guan, Zhihong, Mei, Huifen, Zhang, Wen, Zhou, Zhizi, Su, Ling, Cheng, Jing, Zheng, Ruidan, Liang, Cuili, Cai, Yanna, Yin, Xi, Wu, Dongyan, Liu, Li, Zeng, Chunhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671943/
https://www.ncbi.nlm.nih.gov/pubmed/36405822
http://dx.doi.org/10.3389/fped.2022.1007219

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671943/
https://www.ncbi.nlm.nih.gov/pubmed/36405822
http://dx.doi.org/10.3389/fped.2022.1007219

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