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

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 understandi...

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Bibliografske podrobnosti
izdano v:BMC Musculoskelet Disord
Main Authors: Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6376686/
https://ncbi.nlm.nih.gov/pubmed/30764793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-019-2420-8
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