Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease

Por Khedhiri, Souhir, Chkioua, Latifa, Ferchichi, Salima, Miled, Abdelhedi, Laradi, Sandrine
Publicado em 2011

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Por Chkioua Latifa, Khedhiri Souhir, Ben Turkia Hadhami, Chahed Henda, Ferchichi Salima, Ben Dridi Marie, Laradi Sandrine, Miled Abdelhedi
Publicado em 2011-11-01

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

Por Chkioua, Latifa, Khedhiri, Souhir, Kassab, Asma, Bibi, Amina, Ferchichi, Salima, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Publicado em 2011

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

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

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Por Chkioua, Latifa, Khedhiri, Souhir, Ben Turkia, Hadhami, Chahed, Henda, Ferchichi, Salima, Ben Dridi, Marie Françoise, Laradi, Sandrine, Miled, Abdelhedi
Publicado em 2011

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation

Por Chkioua, Latifa, Khedhiri, Souhir, Hafsi, Hind, Grissa, Oussama, Ben Turkia, Hadhami, Miled, Abdelhedi, Laradi, Sandrine, Froissart, Roseline, Alif, Najat
Publicado no Diagn Pathol (2016)

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