Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Abstract Background Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation(s) within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP has a heterogeneous presentation, which coupled with its rarity, often leads to missed/delayed diagnosis and an incomplete und...

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Bibliographic Details
Main Authors: Wolfgang Högler, Craig Langman, Hugo Gomes da Silva, Shona Fang, Agnès Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, Priya S. Kishnani
Format: Article
Language:English
Published: BMC 2019-02-01
Series:BMC Musculoskeletal Disorders
Subjects:
Hypophosphatasia
Natural history
Rare diseases
Alkaline phosphatase
Asfotase alfa
Online Access:http://link.springer.com/article/10.1186/s12891-019-2420-8

Internet

http://link.springer.com/article/10.1186/s12891-019-2420-8

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