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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Xehetasun bibliografikoak
Argitaratua izan da:J Endocr Soc
Egile Nagusiak: Tilden, Daniel, Ramirez, Andrea, Sheehan, Jonathan, Smith, Derek, Newman, John, Dahir, Kathryn
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Endocrine Society 2019
Gaiak:
Bone and Mineral Metabolism
Sarrera elektronikoa: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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