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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:J Endocr Soc
Main Authors: Tilden, Daniel, Ramirez, Andrea, Sheehan, Jonathan, Smith, Derek, Newman, John, Dahir, Kathryn
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2019
Teme:
Bone and Mineral Metabolism
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553214/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-528
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki