Almenabawy N - Search Results

1

Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.

Almenabawy N, Hung C, Sosova I, Mercimek-Andrews S. Almenabawy N, et al. Am J Med Genet A. 2024 Mar 29:e63595. doi: 10.1002/ajmg.a.63595. Online ahead of print. Am J Med Genet A. 2024. PMID: 38549495

2

Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.

Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Balla T, Gomes MV, Ramos-Morales E, Brivio E, Salinas-Giégé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Gable D, Alnuzha A, Kamel M, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. Del-Pozo-Rodriguez J, et al. Among authors: almenabawy n. medRxiv [Preprint]. 2024 Mar 5:2024.03.01.24303485. doi: 10.1101/2024.03.01.24303485. medRxiv. 2024. PMID: 38496416 Free PMC article. Preprint.

3

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.

Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S. Almenabawy N, et al. Mol Genet Metab Rep. 2024 Jan 25;38:101055. doi: 10.1016/j.ymgmr.2024.101055. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469090 Free PMC article.

4

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Almenabawy N, Ramadan M, Kamel M, Mahmoud IG, Amer F, Shaheen Y, Elnaggar W, Selim L. Almenabawy N, et al. Am J Med Genet A. 2023 Sep;191(9):2354-2363. doi: 10.1002/ajmg.a.63342. Epub 2023 Jul 10. Am J Med Genet A. 2023. PMID: 37596900

5

Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children.

Seliem ZS, Mehaney DA, Selim LAE, El-Saiedi SA, Ismail RI, Almenabawy NM, Ammar RI, Saad IA, Soliman MM, Elmonem MA. Seliem ZS, et al. Among authors: almenabawy nm. Afr Health Sci. 2022 Mar;22(1):200-209. doi: 10.4314/ahs.v22i1.26. Afr Health Sci. 2022. PMID: 36032483 Free PMC article.

6

Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants.

AlMenabawy N, Hassaan HM, Ramadan M, Ehsan Abdel Meguid I, Ahmed El Gindy H, Beetz C, Selim L. AlMenabawy N, et al. Mitochondrion. 2022 Jul;65:139-144. doi: 10.1016/j.mito.2022.06.004. Epub 2022 Jun 22. Mitochondrion. 2022. PMID: 35750291

7

Mahmoud IG, Elmonem MA, Zaki MS, Ramadan A, Al-Menabawy NM, El-Gamal A, Mansour L, Issa MY, Abdel-Hamid MS, Abdel-Hady S, Khalifa I, Ibrahim A, Solyom A, Rolfs A, Selim L. Mahmoud IG, et al. Clin Genet. 2020 Dec;98(6):598-605. doi: 10.1111/cge.13834. Epub 2020 Sep 2. Clin Genet. 2020. PMID: 32875576

8

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. 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.

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