Article
Pediatric hypophosphatasia: a retrospective single-centre chart review of 50 children
2020-01-28
Abstract excerpt
<title>Abstract</title> <p>Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical presentation is highly heterogeneous with a remarkably wide-ranging severity. HPP affects patients of all ages. Therefore, diagnosis is often difficult and delayed. To impr...
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Identifiers and source
- Literature Corpus work
- e545a1da-79f5-5de7-95b6-a5bff058548a
- DOI
- 10.21203/rs.2.22056/v1