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 ...

Children with this condition typically develop autosomal-recessive hypophosphatemic rickets type 2 (ARHR2), while adolescents and adults may develop osteomalacia, or softened bones. ARHR2 and ...