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» Authors » Boudour Khabou

Boudour Khabou

Explore the profile of Boudour Khabou including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 15
Citations 28
Followers 0
Related Specialties
Biochemistry
Neurology
Dermatology
Top 10 Co-Authors
Faiza Fakhfakh
Veronique Barbu
Abir Ben Issa
Leila Keskes
Chahnez Triki
Emna Mkaouar-Rebai
Thouraya Kammoun
Olfa Abida
Rahma Felhi
Lamia Gargouri
Published In
Clin Chim Acta
J Hum Genet
Ann Hum Genet
Comput Biol Chem
Biochem Biophys Res Commun
Affiliations
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Recent Articles
11.
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment
Khabou B, Mahjoub B, Barbu V, Balhoudi N, Wardani A, Sfar M, et al.
Clin Chim Acta . 2018 Jul; 486:122-128. PMID: 30036524
Introduction: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a chronic autosomal recessive disorder characterized by a wide spectrum of clinical severity generally related to the degree of pathogenicity of...
12.
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family
Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, et al.
Biochem Biophys Res Commun . 2017 Dec; 495(2):1730-1737. PMID: 29217198
Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes:...
13.
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state
Ben Jdila M, Ben Issa A, Khabou B, Ben Rhouma B, Kamoun F, Ammar-Keskes L, et al.
Clin Chim Acta . 2017 Aug; 473:51-59. PMID: 28780406
Introduction: West syndrome is a rare epileptic encephalopathy of early infancy, characterized by epileptic spasms, hypsarrhythmia, and psychomotor retardation beginning in the first year of life. Methods: The present study...
14.
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases
Khabou B, Durand-Schneider A, Delaunay J, Ait-Slimane T, Barbu V, Fakhfakh F, et al.
Int J Biochem Cell Biol . 2017 Jun; 89:101-109. PMID: 28587926
Genetic variations of the phosphatidylcholine transporter, ABCB4 cause several biliary diseases. The large number of reported variations makes it difficult to foresee a comprehensive study of each variation. To appreciate...
15.
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease
Khabou B, Siala-Sahnoun O, Gargouri L, Mkaouar-Rebai E, Keskes L, Hachicha M, et al.
Comput Biol Chem . 2016 Oct; 65:103-109. PMID: 27788395
Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3) is an autosomal-recessive liver disease due to mutations in the ABCB4 gene encoding for the MDR3 protein. In the present study, we performed...