Latifa Chkioua

Monastir, Tunisia

Last Updated: 09/26/2026

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Found 23 publications

Mucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression.

Mucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression.

Journal: Molecular biology reports

Published: January 07, 2026

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.

Journal: BMC genomic data

Published: November 03, 2025

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.

Journal: Molecular genetics and metabolism reports

Published: October 15, 2024

Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.

Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.

Journal: BMC genomics

Published: April 07, 2024

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

Journal: BMC genomics

Published: November 09, 2023

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.

Journal: Diabetology & metabolic syndrome

Published: December 23, 2022

Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Journal: BMC medical genomics

Published: December 16, 2021

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Journal: Diagnostic pathology

Published: October 27, 2021

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Journal: BMC medical genomics

Published: February 09, 2021

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.

Journal: BMC medical genetics

Published: August 25, 2019

Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population.

Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population.

Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis

Published: October 17, 2018

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

Journal: Diagnostic pathology

Published: September 11, 2017

Showing 1-12 of 23

Last Updated: 09/26/2026