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Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
Cherif W, Rhouma FB, Chehida AB, Azzouz H, Monastiri K, Amri F, Chemli J, Kaabachi N, Abdelhak S, Tebib N, Dridi MF. Cherif W, et al. Among authors: kaabachi n. Pathol Biol (Paris). 2011 Aug;59(4):e93-6. doi: 10.1016/j.patbio.2009.05.004. Epub 2009 Nov 5. Pathol Biol (Paris). 2011. PMID: 19896294
[Molecular diagnosis of Gaucher disease in Tunisia].
Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda MC, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, Ben Dridi MF. Cherif W, et al. Among authors: kaabachi n. Pathol Biol (Paris). 2013 Apr;61(2):59-63. doi: 10.1016/j.patbio.2012.03.006. Epub 2012 Apr 27. Pathol Biol (Paris). 2013. PMID: 22542428 French.
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: kaabachi n. 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
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: kaabachi n. 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
A novel 22bp deletion in a Tunisian phenylketonuria family.
Khemir S, Siala H, Azzouz H, Tebib N, Dhondt JL, Messaoud T, Abdelhak S, Ben Dridi MF, Kaabachi N. Khemir S, et al. Among authors: kaabachi n. Pathol Biol (Paris). 2012 Dec;60(6):e87-9. doi: 10.1016/j.patbio.2012.03.007. Epub 2012 May 7. Pathol Biol (Paris). 2012. PMID: 22572109
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.
Ben Chehida A, Ben Messaoud S, Ben Abdelaziz R, Ben Ali N, Boudabous H, Ben Abdelaziz I, Ben Ameur Z, Sassi Y, Kaabachi N, Abdelhak S, Abdelmoula MS, Fradj M, Azzouz H, Tebib N. Ben Chehida A, et al. Among authors: kaabachi n. Neuropediatrics. 2019 Feb;50(1):22-30. doi: 10.1055/s-0038-1669786. Epub 2018 Oct 11. Neuropediatrics. 2019. PMID: 30308687
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.
Ben Chehida A, Ben Messaoud S, Ben Abdelaziz R, Mansouri H, Boudabous H, Hakim K, Ben Ali N, Ben Ameur Z, Sassi Y, Kaabachi N, Abdelhak S, Abdelmoula MS, Azzouz H, Tebib N. Ben Chehida A, et al. Among authors: kaabachi n. J Pediatr Endocrinol Metab. 2018 Sep 25;31(9):979-986. doi: 10.1515/jpem-2018-0151. J Pediatr Endocrinol Metab. 2018. PMID: 30110253
Phenotypic spectrum of fucosidosis in Tunisia.
Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF. Ben Turkia H, et al. Among authors: kaabachi n. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S313-6. doi: 10.1007/s10545-008-0891-0. Epub 2008 Jul 27. J Inherit Metab Dis. 2008. PMID: 18651239
179 results