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

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 a...

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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Vogt, Marius, Girschick, Hermann, Schweitzer, Tilmann, Benoit, Clemens, Holl-Wieden, Annette, Seefried, Lothar, Jakob, Franz, Hofmann, Christine
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7436954/
https://ncbi.nlm.nih.gov/pubmed/32811521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01500-x
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