LC
Latifa Chkioua

Publications (16)

Molecular Characterization of Tunisian Cystinosis Patients Reveals a High Prevalence of the c.829dup Mutation
Article scientifique · 2025
Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the p.P533R Mutation in the Maghreb Population
Article scientifique · 2023
Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
Article scientifique · 2023
Identification of mutations that causes glucose-6-phosphate transporter defect in Tunisian patients with glycogenosis type 1b
Article scientifique · 2023
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
Article scientifique · 2022
The Missense Mutation In ARSA Gene Causes The Juvenile Form Of MLD
Article scientifique · 2022
Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
Article scientifique · 2021
Molecular Characterization of CNTS Mutations in Tunisian Patients with Ocular Cystinosis
Article scientifique · 2021
Ophthalmic and Genetics Profiles of Cystinosis in Tunisian Patients
Article scientifique · 2021
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
Article scientifique · 2021
Fucosidosis in Tunisians patients: Mutational analysis and homology-based modeling of FUCA1 enzyme
Article scientifique · 2021
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Article scientifique · 2020
The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Article scientifique · 2020
The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Article scientifique · 2019
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Article scientifique · 2018
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation
Article scientifique · 2016

Domaines principaux

Sciences de la santé16

Statistiques

Consultations44
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