Particularité de la cystinose infantile chez l'enfant tunisien

Por Jellouli, Manel, Turkia, Hadhami Ben, Abidi, Kamel, Hammi, Yosra, Gargah, Tahar
Publicado no Pan Afr Med J (2015)

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

Por Chkioua, Latifa, Boudabous, Hela, Jaballi, Ibtissem, Grissa, Oussama, Turkia, Hadhami Ben, Tebib, Neji, Laradi, Sandrine
Publicado no Diagn Pathol (2018)

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

Por Chkioua, Latifa, Khedhiri, Souhir, Grissa, Oussama, Aloui, Chaker, Turkia, Hadhami Ben, Ferchichi, Salima, Miled, Abdelhedi, Froissart, Roseline, Acquaviva, Cecile, Laradi, Sandrine
Publicado no Meta Gene (2015)

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

Por Chkioua, Latifa, Khedhiri, Souhir, Turkia, Hadhami Ben, Tcheng, Rémy, Froissart, Roseline, Chahed, Henda, Ferchichi, Salima, Ben Dridi, Marie Françoise, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Publicado em 2011

Effect of Oral Eliglustat vs Placebo on Spleen Volume in Patients with Splenomegaly and Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial

Por Mistry, Pramod K., Lukina, Elena, Turkia, Hadhami Ben, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Shankar, Suma, Solano, Maria Helena, Ross, Leorah, Angell, Jennifer, Peterschmitt, M. Judith
Publicado no JAMA (2015)