Adult hypophosphatasia presenting with recurrent acute joint pain

Adult hypophosphatasia presenting with recurrent acute joint pain

Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in children, but can appear in adults with sympt...

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Main Authors: Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto
Format: Article
Language:English
Published: Bioscientifica 2025-01-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Subjects:
hypophosphatasia
genetic disorders
bone
Online Access:https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0121.xml
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