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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Vydáno v:J Endocr Soc
Hlavní autoři: Tilden, Daniel, Ramirez, Andrea, Sheehan, Jonathan, Smith, Derek, Newman, John, Dahir, Kathryn
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2019
Témata:
Bone and Mineral Metabolism
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553214/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-528
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