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Article

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.

Calcified tissue international - 1 Mar 2020

Michigami Toshimi, Tachikawa Kanako, Yamazaki Miwa, Kawai Masanobu, Kubota Takuo, Ozono Keiichi

Abstract excerpt

Hypophosphatasia (HPP) is highly variable in clinical expression and is generally classified into six subtypes. Although it would be beneficial to be able to predict the clinical course from the ALPL genotype, studies on this issue are limited. Here, we aimed to clarify the features of Japanese HPP and the relationships between genotype and clinical manifestations. We analyzed 98 unrelated Japanese patients to...

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PMID: 31707452
DOI: 10.1007/s00223-019-00626-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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