Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Imad A. AlJahdali"'
Autor:
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variable expressivity and common como
Externí odkaz:
https://doaj.org/article/3c0b8312931542ca91a8be99b5e1acde
Autor:
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-17 (2022)
Abstract This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in th
Externí odkaz:
https://doaj.org/article/4583e2e4e7bb46e0adcd2247e7f26fe4