Dr Nour Elkhateeb - Publications

Elkhateeb N, Olivieri G, Siri B, et al. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology. medRxiv 2022.10.19.22281191

21 Oct 2022

Mahmoud IG, Elmonem MA, Elkhateeb NM, et al., Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations. Clin Genet. 2019;95:537-539.

11 Jan 2019

Nabhan MM, ElKhateeb N, Braun DA, et al. Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet Part A. 2017;173A:2697–2702.

17 Aug 2017

Ebrahimi-Fakhari D, Teinert J, Behne R, et al. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020;143:2929-2944

01 Oct 2020

Elkhateeb N, Chakrapani A, Davison J, Grunewald S, Batzios S. Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication. JIMD Rep. 2020;57(1):15-22.

19 Oct 2020

Abdelmesih SK, Elkhateeb N, Zakaria M, Girgis MY. Initial levetiracetam versus valproate monotherapy in antiseizure medicine (ASM)-naïve pediatric patients with idiopathic generalized epilepsy with tonic-clonic seizures. Seizure. 2021;91:263-270.

03 Jul 2021

Musa N, Elmonem MA, Beetz C, et al. A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Clin Genet. 2021;100(5):641-642.

11 Aug 2021

Elkhateeb N, Selim R, Soliman NA, et al. Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis. Pediatr Nephrol. 2022;37(7):1555-1566.

18 Nov 2021