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...

Descripción completa

Detalles Bibliográficos
Autores principales: Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376686/
https://www.ncbi.nlm.nih.gov/pubmed/30764793
http://dx.doi.org/10.1186/s12891-019-2420-8

Ejemplares similares

Ejemplares similares