A high Tm Pi in hypophosphatemia is indicative of increased renal excretion secondary to a PTH-mediated mechanism, Fanconi syndrome, XLH, autosomal dominant hypophosphatemic rickets or oncogenic ...

or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2), representing age-dependent phenotypes that evolve on a continuum over a lifetime. Of the 84 individuals with ENPP1 Deficiency in the ...

Beyond oncology, the article underscores FAM20C's involvement in bone and dental health, linking it to diseases such as Raine syndrome and hypophosphatemic rickets. Furthermore, the authors ...

The study's findings illustrate that ENPP1 Deficiency, which often presents as Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2), ...