Sažetak sa skupa
https://doi.org/10.26800/LV-144-supl6-PS34
Familial Hypophosphatemic Rickets: Genetic Basis, case study and novel therapy
Lea Jukić
Dina Gržan
Danijela Petković Ramadža
Ivo Barić
Tamara Žigman
Mislav Čavka
Sažetak
Familial hypophosphatemic rickets (X-linked hypophosphatemic rickets) is a metabolic bone disease characterized by an increase in systemic circulating fibroblast growth factor-23 due to an inactivating mutation in the PHEX gene and consequential phosphate wasting leading to rickets.
Ključne riječi
Alkaline Phosphatase; Calcitriol; Familial Hypophosphatemic Rickets; Fibroblast Growth Factor-23; Phosphates
Hrčak ID:
291112
URI
Datum izdavanja:
8.12.2022.
Posjeta: 446 *