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Page 1
Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF. Barkaoui E, et al. Among authors: abdelhak s. J Inherit Metab Dis. 2007 Nov;30(6):989. doi: 10.1007/s10545-007-0737-1. Epub 2007 Nov 19. J Inherit Metab Dis. 2007. PMID: 18008183
Gene Symbol: ars. Disease: Mal de Meleda.
Abdelhak S, Charfeddine C, Mokni M, Mousli RB, Elkares R, Bouchlaka C, Boubaker S, Ghedamsi S, Baccouche D, Osman AB, Dellagi K. Abdelhak S, et al. Hum Genet. 2004 May;114(6):609. Hum Genet. 2004. PMID: 15176391 No abstract available.
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S. Charfeddine C, et al. Among authors: abdelhak s. Mol Genet Metab. 2006 Jun;88(2):184-91. doi: 10.1016/j.ymgme.2006.02.006. Epub 2006 Mar 30. Mol Genet Metab. 2006. PMID: 16574453
Familial aggregation and excess maternal transmission of type 2 diabetes in Tunisia.
Arfa I, Abid A, Malouche D, Ben Alaya N, Azegue TR, Mannai I, Zorgati MM, Ben Rayana MC, Ben Ammar S, Blousa-Chabchoub S, Ben Romdhane H, Zouari B, Dellagi MK, Abdelhak S. Arfa I, et al. Among authors: abdelhak s. Postgrad Med J. 2007 May;83(979):348-51. doi: 10.1136/pgmj.2006.053744. Postgrad Med J. 2007. PMID: 17488867 Free PMC article.
[Primary hyperoxaluria in children in central Tunisia].
Chemli J, Abdennabi H, Zorgati M, Abdelhak S, Nabli N, Abroug S, Sfar MT, Ben Dhia N, Amri F, Harbi A. Chemli J, et al. Among authors: abdelhak s. Tunis Med. 2007 Jun;85(6):513-8. Tunis Med. 2007. PMID: 17644908 French.
249 results