Kaabachi N - Search Results

1

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.

Kraoua I, Wiame E, Kraoua L, Nasrallah F, Benrhouma H, Rouissi A, Turki I, Chaabouni H, Briand G, Kaabachi N, Van Schaftingen E, Gouider-Khouja N. Kraoua I, et al. Among authors: kaabachi n. Neuropediatrics. 2013 Oct;44(5):281-5. doi: 10.1055/s-0033-1338133. Epub 2013 Apr 6. Neuropediatrics. 2013. PMID: 23564319 Review.

2

Creatine and creatine deficiency syndromes: biochemical and clinical aspects.

Nasrallah F, Feki M, Kaabachi N. Nasrallah F, et al. Among authors: kaabachi n. Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Pediatr Neurol. 2010. PMID: 20159424 Review.

3

GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis.

Nasrallah F, Feki M, Briand G, Kaabachi N. Nasrallah F, et al. Among authors: kaabachi n. Clin Biochem. 2010 Nov;43(16-17):1356-61. doi: 10.1016/j.clinbiochem.2010.08.004. Epub 2010 Aug 13. Clin Biochem. 2010. PMID: 20709046

4

[A novel mutation in PEX 26 gene in Zellweger syndrome: a case report].

Ben Turkia H, Yangui M, Azzouz H, Ben Chehida A, Ben Abelaziz R, Abdelmoula MS, Nasrallah F, Kaabachi N, Wanders R, Tebib N, Ben Dridi MF. Ben Turkia H, et al. Among authors: kaabachi n. Tunis Med. 2011 Mar;89(3):288-91. Tunis Med. 2011. PMID: 21387236 Free article. French.

5

Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years.

Hadj-Taieb S, Nasrallah F, Hammami MB, Elasmi M, Sanhaji H, Moncef F, Kaabachi N. Hadj-Taieb S, et al. Among authors: kaabachi n. Tunis Med. 2012 Mar;90(3):258-61. Tunis Med. 2012. PMID: 22481200 Free article.

6

Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features.

Nasrallah F, Kraoua I, Joncquel-Chevalier Curt M, Bout MA, Taieb SH, Feki M, Khouja N, Briand G, Kaabachi N. Nasrallah F, et al. Among authors: kaabachi n. Clin Lab. 2012;58(5-6):427-32. Clin Lab. 2012. PMID: 22783571

7

First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.

Esseghir N, Bouchlaka CS, Fredj SH, Chehida AB, Azzouz H, Fontaine M, Tebib N, Dridi MF, Briand G, Messaoud T, Elgaaied AB, Kaabachi N. Esseghir N, et al. Among authors: kaabachi n. JIMD Rep. 2011;1:37-8. doi: 10.1007/8904_2011_13. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430825 Free PMC article.

8

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S. Ben Rhouma F, et al. Among authors: kaabachi n. Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8. Mol Biol Rep. 2013. PMID: 23649758

9

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.

Bouyacoub Y, Zribi H, Azzouz H, Nasrallah F, Abdelaziz RB, Kacem M, Rekaya B, Messaoud O, Romdhane L, Charfeddine C, Bouziri M, Bouziri S, Tebib N, Mokni M, Kaabachi N, Boubaker S, Abdelhak S. Bouyacoub Y, et al. Among authors: kaabachi n. Gene. 2013 Oct 15;529(1):45-9. doi: 10.1016/j.gene.2013.07.066. Epub 2013 Aug 13. Gene. 2013. PMID: 23954227

10

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. Among authors: kaabachi n. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090

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