Đang chuẩn bị liên kết để tải về tài liệu:
Diagnostic delay is common among patients with hypophosphatasia: Initial findings from a longitudinal, prospective, global registry

Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation(s) within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP has a heterogeneous presentation, which coupled with its rarity, often leads to missed/delayed diagnosis and an incomplete understanding of its natural history. |