Abdelrahim A. Sadek
15 University Street
Sohag, SHG 82524, Egypt
Sohag, SHG 82524, Egypt
Last Updated: 09/26/2026
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Found 37 publications
Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.
Journal: BMC pediatrics
Published: March 18, 2026
Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.
Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.
Journal: Pediatric neurology
Published: January 05, 2026
A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children.
Journal: Scientific reports
Published: August 16, 2025
Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.
Journal: Italian journal of pediatrics
Published: June 20, 2025
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probands.
Journal: European journal of human genetics : EJHG
Published: January 19, 2025
Combined Ketamine and Midazolam Versus Midazolam Alone for Initial Treatment of Pediatric Generalized Convulsive Status Epilepticus (Ket-Mid Study): A Randomized Controlled Trial.
Journal: Pediatric neurology
Published: December 31, 2024
Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.
Journal: Clinical medicine insights. Pediatrics
Published: October 30, 2024
Last Updated: 09/26/2026