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pro vyhledávání: '"Reem Elshafie"'
Autor:
Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with
Externí odkaz:
https://doaj.org/article/24ae6e5fe6ee456cbc8b7a2bb5c1a858
