Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults

Hypophosphatasia (HPP) is an inherited disease caused by ALPL mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging. This study aims to clarify the clinical and g...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Xiang, Ren, Na, Wang, Ziyuan, Wang, Ya, Hu, Yunqiu, Hu, Weiwei, Gu, Jiemei, Hong, Wei, Zhang, Zhenlin, Wang, Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137706/
https://www.ncbi.nlm.nih.gov/pubmed/37107680
http://dx.doi.org/10.3390/genes14040922

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137706/
https://www.ncbi.nlm.nih.gov/pubmed/37107680
http://dx.doi.org/10.3390/genes14040922

Ejemplares similares