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Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA. Mahmoud IG, et al. Among authors: elmonem ma. Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633340 Review. No abstract available.
Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.
Hassan FA, El-Mougy F, Sharaf SA, Mandour I, Morgan MF, Selim LA, Hassan SA, Salem F, Oraby A, Girgis MY, Mahmoud IG, El-Badawy A, El-Nekhely I, Moharam N, Mehaney DA, Elmonem MA. Hassan FA, et al. Among authors: elmonem ma. J Med Screen. 2016 Sep;23(3):124-9. doi: 10.1177/0969141315618229. Epub 2016 Jan 20. J Med Screen. 2016. PMID: 26790708
Lysosomal Storage Disorders in Egyptian Children.
Elmonem MA, Mahmoud IG, Mehaney DA, Sharaf SA, Hassan SA, Orabi A, Salem F, Girgis MY, El-Badawy A, Abdelwahab M, Salah Z, Soliman NA, Hassan FA, Selim LA. Elmonem MA, et al. Indian J Pediatr. 2016 Aug;83(8):805-13. doi: 10.1007/s12098-015-2014-x. Epub 2016 Feb 2. Indian J Pediatr. 2016. PMID: 26830282
70 results