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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Vogt, Marius, Girschick, Hermann, Schweitzer, Tilmann, Benoit, Clemens, Holl-Wieden, Annette, Seefried, Lothar, Jakob, Franz, Hofmann, Christine
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Research
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars