Abdelghaffar TY - Search Results

1

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Abdelghaffar TY, Elsayed SM, Elsobky E, Bochow B, Büttner J, Schmidt H. Abdelghaffar TY, et al. J Hum Genet. 2008;53(8):681. doi: 10.1007/s10038-008-0298-7. Epub 2008 May 16. J Hum Genet. 2008. PMID: 18483695

2

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ. Ebermann I, et al. Neurology. 2008 Jun 10;70(24):2343-4. doi: 10.1212/01.wnl.0000314731.65875.5c. Neurology. 2008. PMID: 18541889 No abstract available.

3

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.

Abdel Ghaffar TY, Elsobky ES, Elsayed SM. Abdel Ghaffar TY, et al. Orphanet J Rare Dis. 2011 Apr 8;6:13. doi: 10.1186/1750-1172-6-13. Orphanet J Rare Dis. 2011. PMID: 21477313 Free PMC article.

4

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Abdel Ghaffar TY, Elsayed SM, Elnaghy S, Shadeed A, Elsobky ES, Schmidt H. Abdel Ghaffar TY, et al. BMC Pediatr. 2011 Jun 17;11:56. doi: 10.1186/1471-2431-11-56. BMC Pediatr. 2011. PMID: 21682854 Free PMC article.

5

Prominent extensor truncal dystonia in Egyptian patients with Wilson's disease.

Shalash AS, Elsayed SM, Elnaghi S, Schneider SA, Abdel Ghaffar TY. Shalash AS, et al. Mov Disord. 2014 Jan;29(1):151-3. doi: 10.1002/mds.25642. Epub 2013 Sep 3. Mov Disord. 2014. PMID: 24038543 No abstract available.

6

Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients.

Abdel Ghaffar TY, Elsayed SM, Sakr MA, Elsobky ES, Abdelhakam SM, Yousuf S, Eğin Y, Akar N. Abdel Ghaffar TY, et al. Turk J Haematol. 2011 Dec 5;28(4):299-305. doi: 10.5152/tjh.2011.84. Turk J Haematol. 2011. PMID: 27264587 Free article. English.

7

MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.

Abdel Ghaffar TY, Ng BG, Elsayed SM, El Naghi S, Helmy S, Mohammed N, El Hennawy A, Freeze HH. Abdel Ghaffar TY, et al. JIMD Rep. 2020 Sep 7;56(1):20-26. doi: 10.1002/jmd2.12159. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204592 Free PMC article.

8

Extra-hepatic portal vein thrombosis in children: Single center experience.

Abdel-Ghaffar TY, Zakaria HM, Naghi SE, Elsayed SM, Haseeb A, Sobhy GA. Abdel-Ghaffar TY, et al. Clin Exp Hepatol. 2023 Mar;9(1):37-45. doi: 10.5114/ceh.2023.125840. Epub 2023 Mar 15. Clin Exp Hepatol. 2023. PMID: 37064838 Free PMC article.

9

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype.

Elsayed SM, Torre E, Tavian D, Moro L, Angelini C, Abdel Ghaffar TY, Zalata K, Fahmy EE, Missaglia S. Elsayed SM, et al. Genes Dis. 2022 Aug 30;10(3):690-693. doi: 10.1016/j.gendis.2022.08.005. eCollection 2023 May. Genes Dis. 2022. PMID: 37396517 Free PMC article. No abstract available.

10

ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis.

Gautheron J, Elsayed S, Pistorio V, Lockhart S, Zammouri J, Auclair M, Koulman A, Meadows SR, Lhomme M, Ponnaiah M, Si-Bouazza R, Fabrega S, Belkadi A; Qatar Genome Project; Delaunay JL, Aït-Slimane T, Fève B, Vigouroux C, Abdel Ghaffar TY, O'Rahilly S, Jéru I. Gautheron J, et al. Proc Natl Acad Sci U S A. 2024 Jun 11;121(24):e2319301121. doi: 10.1073/pnas.2319301121. Epub 2024 Jun 5. Proc Natl Acad Sci U S A. 2024. PMID: 38838011 Free PMC article.

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