A rare case of adult hypophosphatasia masked with primary hyperparathyroidism

Abstract 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, muscl...

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Veröffentlicht in:JCEM case reports 2023-01, Vol.1 (Supplement_1)
Hauptverfasser: Mutlu, Ümmü, Sarıbeyliler, Göktuğ, Hacişahinoğulları, Hülya, Yalın Işcan, Ahmet, Aksakal, Nihat, Yenidünya Yalın, Gülşah, Selçukbiricik, Özlem Soyluk, Kubat Üzüm, Ayşe, Gül, Nurdan
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Sprache:eng
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