SUN-528 The Clinical Utility of Gene Sequencing in Hypophosphatasia: Lessons from Patients with Two Rare Variants

Objectives: Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity along with clinical manifestations varying from seizures to frequent fractures. Diagnosis of HPP is complicated both by its variable clinical phenotype and variable age of onset - patients are o...

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Detalles Bibliográficos
Autores principales: Tilden, Daniel, Ramirez, Andrea, Sheehan, Jonathan, Smith, Derek, Newman, John, Dahir, Kathryn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Bone and Mineral Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553214/
http://dx.doi.org/10.1210/js.2019-SUN-528

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553214/
http://dx.doi.org/10.1210/js.2019-SUN-528

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