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THU457 Variable Presentations Of Hypophosphatasia In Two Patients In The Outpatient Setting

Disclosure: A. Elmaaz: None. S. Batool: None. P. Dandona: None. Introduction: Hypophosphatasia is a rare disorder characterized by defective mineralization of bone and teeth which is caused by an autosomal inherited mutation in the tissue nonspecific alkaline phosphatase (ALP) encoding genes. Here w...

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Detalles Bibliográficos
Autores principales: Elmaaz, Ahmed, Batool, Syeda Sabeeka, Dandona, Paresh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554861/
http://dx.doi.org/10.1210/jendso/bvad114.418