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Identifying adult hypophosphatasia in the rheumatology unit

BACKGROUND: The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis. The aim of the study was to assess the prevalence of ALPL mutations in adult patients treated in rheumatological outp...

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Detalles Bibliográficos
Autores principales: Feurstein, Julia, Behanova, Martina, Haschka, Judith, Roetzer, Katharina, Uyanik, Gökhan, Hadzimuratovic, Benjamin, Witsch-Baumgartner, Martina, Schett, Georg, Zwerina, Jochen, Kocijan, Roland
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9749273/
https://www.ncbi.nlm.nih.gov/pubmed/36514157
http://dx.doi.org/10.1186/s13023-022-02572-7