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

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

Abstract 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 severit...

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Bibliographic Details
Main Authors: Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob, Christine Hofmann
Format: Article
Language:English
Published: BMC 2020-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hypophosphatasia
Alkaline phosphatase
Asfotase alfa
Rare bone disease
Osteomalacia
Rickets
Online Access:http://link.springer.com/article/10.1186/s13023-020-01500-x

Internet

http://link.springer.com/article/10.1186/s13023-020-01500-x

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