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Article

Clinical and genetic aspects of hypophosphatasia in Japanese patients.

Archives of disease in childhood - 1 Mar 2014

Taketani Takeshi, Onigata Kazumichi, Kobayashi Hironori, Mushimoto Yuichi, Fukuda Seiji, Yamaguchi Seiji

Abstract excerpt

OBJECTIVE: We examined the clinical and genetic features of hypophosphatasia (HPP) in Japanese patients. HPP is a rare metabolic bone disorder of bone mineralisation caused by mutations in the liver/bone/kidney alkaline phosphatase (ALPL) gene, which encodes tissue-non-specific alkaline phosphatase isoenzyme. METHODS: We retrospectively investigate the incidence and clinical features of 52 patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24276437
DOI: 10.1136/archdischild-2013-305037

Genes

ALPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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