Hyperphosphatemia With Low FGF7 and Normal FGF23 and sFRP4 Levels In The Circulation Characterizes Pediatric Hypophosphatasia

Hypophosphatasia (HPP) is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of the ALPL gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP in healthy individuals is on cell surfaces richly in bone, liver, and kidney. Thus, TNSALP natural s...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Bone
Hlavní autoři: Whyte, Michael P., Zhang, Fan, Wenkert, Deborah, Mumm, Steven, Berndt, Theresa J., Kumar, Rajiv
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7233305/
https://ncbi.nlm.nih.gov/pubmed/32112990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2020.115300
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky