Showing results (1-10 of 13) with videos related to
Sort By:
Pageof 2
Scientific Reports|September 1, 2023
Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuriaZeinab S Abdelkhalek, Iman G Mahmoud, Heba Omair, et al.American Journal of Medical Genetics. Part A|August 19, 2023
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patientsNihal Almenabawy, Manal Ramadan, Mona Kamel, et al.Scientific Reports|November 17, 2024
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine diseaseZeinab S Abdelkhalek, Shadia M Hussein, Iman G Mahmoud, et al.Pediatric Neurology|December 10, 2013
Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patientsIman G Mahmoud, Marwa Mahmoud, Miral Refaat, et al.Indian Journal of Pediatrics|February 3, 2016
Lysosomal Storage Disorders in Egyptian ChildrenMohamed A Elmonem, Iman G Mahmoud, Dina A Mehaney, et al.Clinical Genetics|September 3, 2020
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotypeIman G Mahmoud, Mohamed A Elmonem, Maha S Zaki, et al.Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.Journal of Medical Screening|January 22, 2016
Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot studyFayza A Hassan, Fatma El-Mougy, Sahar A Sharaf, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, et al.Human Mutation|May 26, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsySarah H Elsea, Alexander Solyom, Kirt Martin, et al.Pageof 2