Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rayyan Albarakati"'
Autor:
Majid Alfadhel, Rayyan Albarakati
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-5 (2024)
Abstract Background PKU is an autosomal recessive hereditary inborn error of metabolism caused by a lack of phenylalanine hydroxylase enzyme activity. Pegvaliase (PALYNZIQ®) treatment has been approved to reduce blood Phe concentrations in adult phe
Externí odkaz:
https://doaj.org/article/bf6a17cad4124d7da98d61584402692f
Autor:
Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Ahmed Alfares, Brahim Tabarki
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common. Thirty disorders were includ
Externí odkaz:
https://doaj.org/article/16784d501eb142d69ee3665c6c73dd51