Article

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children

2020-07-10

Abstract excerpt

<title>Abstract</title> <p><underline>Background:</underline> 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. In children HPP-related musculoskelet...

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Literature Corpus work: 93f523bf-1d6f-5a2d-9759-8dc2496bfc29
DOI: 10.21203/rs.3.rs-23745/v2

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