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Faiza Fakhfakh

Publications (6)

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome
Article scientifique · 2023
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy
Article scientifique · 2023
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Article scientifique · 2022
A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
Article scientifique · 2021
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
Article scientifique · 2019
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations
Article scientifique · 2017

Domaines principaux

Sciences de la vie et biotechnologies4 Sciences de la santé2

Statistiques

Consultations15
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