Hadhami B. Turkia
Tunis, Tunisia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Journal: Diagnostic pathology
Published: October 27, 2021
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
Journal: BMC medical genetics
Published: August 25, 2019
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Journal: Blood cells, molecules & diseases
Published: April 05, 2019
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Journal: Blood cells, molecules & diseases
Published: February 26, 2018
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].
Journal: Molecular genetics and metabolism
Published: November 14, 2017
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Journal: Diagnostic pathology
Published: September 11, 2017
Response to request by journal editorship from Blood Cells, Molecules and Diseases in reference to a "Dear Editor" letter to the Pastores et al. paper, 2016.
Journal: Blood cells, molecules & diseases
Published: April 10, 2017
Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.
Journal: Blood cells, molecules & diseases
Published: September 19, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Journal: Molecular genetics and metabolism
Published: March 09, 2016
Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.
Journal: Blood cells, molecules & diseases
Published: February 04, 2016
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.
Journal: Meta gene
Published: April 29, 2015
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Journal: American journal of hematology
Published: October 30, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026