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A rare case of adult hypophosphatasia masked with primary hyperparathyroidism

INTRODUCTION: Hypophosphatasia (HPP) is a rare inherited disorder of bone and mineral metabolism due to mutations in the Alkaline Phosphatase-Liver (ALPL) gene encoding the tissue nonspecific alkaline phosphatase (TNSALP). Clinical features of HPP in adults include early loss of teeth, muscle weakne...

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Detalles Bibliográficos
Autores principales: Mutlu, Ümmü, Sarıbeyliler, Göktuğ, Hacişahinoğulları, Hülya, Yalın Işcan, Ahmet, Aksakal, Nihat, Yenidünya Yalın, Gülşah, Selçukbiricik, Özlem Soyluk, Kubat Üzüm, Ayşe, Gül, Nurdan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653134/
http://dx.doi.org/10.1210/jcemcr/luac014.021