Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase.

Autor: Alyazidi AS; Undergraduate Student, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Muthaffar OY; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Shawli MK; Undergraduate Student, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Ahmed RA; Undergraduate Student, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Aljefri YF; Undergraduate Student, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Baaishrah LS; Undergraduate Student, Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia., Jambi AT; Undergraduate Student, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Alotibi FA; Undergraduate Student, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Publikováno v: Journal of microscopy and ultrastructure [J Microsc Ultrastruct] 2022 Dec 01; Vol. 12 (2), pp. 81-90. Date of Electronic Publication: 2022 Dec 01 (Print Publication: 2024).