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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...

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Détails bibliographiques
Publié dans:Bone
Auteurs principaux: Whyte, Michael P., Zhang, Fan, Wenkert, Deborah, Mumm, Steven, Berndt, Theresa J., Kumar, Rajiv
Format: Artigo
Langue:Inglês
Publié: 2020
Sujets:
Accès en ligne: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
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