Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia.
Sign Up to like & getrecommendations! Published in 2020 at "Bone"
DOI: 10.1016/j.bone.2020.115300
Abstract: 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… read more here.
Keywords: hypophosphatasia; fgf23 sfrp4; hyperphosphatemia low; hyperphosphatemia ... See more keywords