Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nagwa Gaboon"'
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
Publikováno v:
Journal of Pediatric Genetics. :e1-e1