Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

BACKGROUND: Hypophosphatasia (HPP) is an inborn disease caused by pathogenic variants in ALPL. Low levels of alkaline phosphatase (ALP) are a biochemical hallmark of the disease. Scarce knowledge about the prevalence of HPP in Scandinavia exists, and the variable clinical presentations make diagnost...

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Detalles Bibliográficos
Autores principales: Hepp, Nicola, Frederiksen, Anja Lisbeth, Duno, Morten, Præst Holm, Jakob, Rye Jørgensen, Niklas, Beck Jensen, Jens-Erik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256181/
https://www.ncbi.nlm.nih.gov/pubmed/34258332
http://dx.doi.org/10.1016/j.bonr.2021.101101

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