Work

Identification of a Novel Compound Heterozygous Variant in the ALPL Gene Linked to Hypophosphatasia in a Chinese Family

Year: 2025

Type: article

Study design: Case Report

Source: The Journal of Clinical Endocrinology & Metabolism

DOI: 10.1210/clinem/dgaf381

Authors: Rongmei Lu, Chuhui Chen, Zhen Yu, Qinyu Liu, Junping Wen, Gang Chen

Institutions: Fujian Medical University, Fuzhou University, Fujian Academy of Medical Sciences

Language: English

Topic: Alkaline Phosphatase Research Studies

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Natural Science Foundation of China, Natural Science Foundation of Fujian Province

Awards: G5934447402, G8522065207

OpenAlex ID: W4411961461

FWCI: 0.587

Cites: 54

Cited by: 1

Related to: 10