Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

por Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae II, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta
Publicado 2020

Features of Autosomal Recessive Alport Syndrome: A Systematic Review

por Lee, Jiwon M., Nozu, Kandai, Choi, Dae Eun, Kang, Hee Gyung, Ha, II-Soo, Cheong, Hae II
Publicado 2019

Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension

por Briot, Karine, Portale, Anthony A, Brandi, Maria Luisa, Carpenter, Thomas O, Cheong, Hae Ii, Cohen-Solal, Martine, Crowley, Rachel K, Eastell, Richard, Imanishi, Yasuo, Ing, Steven, Insogna, Karl, Ito, Nobuaki, Jan de Beur, Suzanne, Javaid, Muhammad K, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin H, Perwad, Farzana, Pitukcheewanont, Pisit, Ralston, Stuart H, Takeuchi, Yasuhiro, Tanaka, Hiroyuki, Weber, Thomas J, Yoo, Han-Wook, Nixon, Annabel, Nixon, Mark, Sun, Wei, Williams, Angela, Imel, Erik A
Publicado 2021