Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report

by Jana Jiráčková, Radomir Hyšpler, Sumaya Alkanderi, Ladislava Pavlíková, Vladimir Palicka, John A. Sayer
Published 2019-07-01

Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes

by Tomás P Griffin, Caroline M Joyce, Sumaya Alkanderi, Liam M Blake, Derek T O’Keeffe, Delia Bogdanet, Md Nahidul Islam, Michael C Dennedy, John E Gillan, John J Morrison, Timothy O’Brien, John A Sayer, Marcia Bell, Paula M O’Shea
Published 2020-06-01

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience

by Hind Alsharhan, Amir A. Ahmed, Naser M. Ali, Ahmad Alahmad, Buthaina Albash, Reem M. Elshafie, Sumaya Alkanderi, Usama M. Elkazzaz, Parakkal Xavier Cyril, Rehab M. Abdelrahman, Alaa A. Elmonairy, Samia M. Ibrahim, Yasser M. E. Elfeky, Doaa I. Sadik, Sara D. Al-Enezi, Ayman M. Salloum, Yadav Girish, Mohammad Al-Ali, Dina G. Ramadan, Rasha Alsafi, May Al-Rushood, Laila Bastaki
Published 2021-08-01