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Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.

Genes - 16 Apr 2023

Li Xiang, Ren Na, Wang Ziyuan, Wang Ya, Hu Yunqiu, Hu Weiwei, Gu Jiemei, Hong Wei, Zhang Zhenlin, Wang Chun

Abstract excerpt

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 genetic characteristics of HPP in Chinese adults. There were 19 patients, including 1 with childhood-onset and 18...

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Identifiers

PMID: 37107680
DOI: 10.3390/genes14040922
PMCID: PMC10137706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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