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Article

Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase.

Calcified tissue international - 15 Jul 2026

Hidaka Naoko, Kimura Soichiro, Watanabe So, Akiyama Tomoyuki, Tachikawa Kanako, Michigami Toshimi, Adachi Natsuho, Irie Koki, Hoshino Yoshitomo, Kato Hajime, Nangaku Masaomi, Tanaka Sakae, Makita Noriko, Saito Taku, Ito Nobuaki

Abstract excerpt

Hypophosphatasia (HPP) is a rare metabolic disorder caused by loss-of-function ALPL variants and characterized by heterogeneous skeletal and extra-skeletal manifestations. Although recent diagnostic criteria include ALPL variants, the diagnosis can be made based solely on clinical features. In adult-onset HPP, however, symptoms are often mild or nonspecific, including musculoskeletal symptoms and fatigue, making...

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Identifiers

PMID: 42457913
DOI: 10.1007/s00223-026-01574-y
PMCID: PMC13372997

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase.PMID 42457913Read ↗

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