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Page 1
Familial encephalopathy and L-2-hydroxyglutaric aciduria.
Kaabachi N, Larnaout A, Rabier D, Jakobs C, Belal S, Hentati F, Parvey P, Bardet J, Ben Hamida M, Mebazaa A, et al. Kaabachi N, et al. J Inherit Metab Dis. 1993;16(5):893. doi: 10.1007/BF00714285. J Inherit Metab Dis. 1993. PMID: 8295407 No abstract available.
Osteoma of the calvaria in L-2-hydroxyglutaric aciduria.
Larnaout A, Amouri R, Neji S, Zouari M, Kaabachi N, Hentati F. Larnaout A, et al. Among authors: kaabachi n. J Inherit Metab Dis. 2007 Nov;30(6):980. doi: 10.1007/s10545-007-0576-0. Epub 2007 Oct 5. J Inherit Metab Dis. 2007. PMID: 17917788
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
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
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
179 results