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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
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
Elmonem MA, Makar SH, van den Heuvel L, Abdelaziz H, Abdelrahman SM, Bossuyt X, Janssen MC, Cornelissen EA, Lefeber DJ, Joosten LA, Nabhan MM, Arcolino FO, Hassan FA, Gaide Chevronnay HP, Soliman NA, Levtchenko E. Elmonem MA, et al. Orphanet J Rare Dis. 2014 Nov 19;9:155. doi: 10.1186/s13023-014-0155-z. Orphanet J Rare Dis. 2014. PMID: 25407738 Free PMC article.
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
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.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, Giraldo P, Grünert SC, Gupta N, Kabra M, Knerr I, Krämer J, Kuster A, Levtchenko E, Ngu LH, Rovira-Remisa MM, Sass JO, Sykut-Cegielska J, Tummolo A, van den Heuvel LP. Elmonem MA, et al. Mol Genet Metab. 2020 Nov;131(3):285-288. doi: 10.1016/j.ymgme.2020.09.004. Epub 2020 Sep 25. Mol Genet Metab. 2020. PMID: 33004274 Free PMC article.
70 results