Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children | Orphanet Journal of Rare Diseases | Full Text

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children | Orphanet Journal of Rare Diseases | Full Text

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

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 pres...

Authors:Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob and Christine Hofmann

Citation:Orphanet Journal of Rare Diseases 2020 15:212

Content type:Research

 

Published on: 18 August 2020

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