Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease von Turkia, Hadhami Ben, Gonzalez, Derlis E., Barton, Norman W., Zimran, Ari, Kabra, Madhulika, Lukina, Elena A., Giraldo, Pilar, Kisinovsky, Isaac, Bavdekar, Ashish, Dridi, Marie‐Françoise Ben, Gupta, Neerja, Kishnani, Priya S., Sureshkumar, E.K., Wang, Nan, Crombez, Eric, Bhirangi, Kiran, Mehta, Atul

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Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double‐blind, multinational, Phase 3 study von Gonzalez, Derlis E., Turkia, Hadhami Ben, Lukina, Elena A., Kisinovsky, Isaac, Dridi, Marie‐Françoise Ben, Elstein, Deborah, Zahrieh, David, Crombez, Eric, Bhirangi, Kiran, Barton, Norman W., Zimran, Ari

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Screening of three Mediterranean phenylketonuria mutations in Tunisian families von KHEMIR, SAMEH, SIALA, HAJER, TAIEB, SAMEH HADJ, CHERIF, WAFA, AZZOUZ, HATEM, KÉFI, RYM, ABDELHAK, SONIA, KHOUJA, NAZIHA, TEBIB, NEJI, MASSAOUD, TAIEB, DRIDI, MARIE FRANÇOISE BEN, KAABACHI, NAZIHA

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

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Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment von Khemir, Sameh, El Asmi, Monia, Sanhaji, Haifa, Feki, Moncef, Jemaa, Riadh, Tebib, Neji, Dhondt, Jean Louis, Ben Dridi, Marie Françoise, Mebazaa, Abderraouf, Kaabachi, Naziha

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Consanguinity, endogamy, and genetic disorders in Tunisia von Ben Halim, Nizar, Ben Alaya Bouafif, Nissaf, Romdhane, Lilia, Kefi Ben Atig, Rym, Chouchane, Ibtissem, Bouyacoub, Yosra, Arfa, Imen, Cherif, Wafa, Nouira, Sonia, Talmoudi, Faten, Lasram, Khaled, Hsouna, Sana, Ghazouani, Welid, Azaiez, Hela, El Matri, Leila, Abid, Abdelmajid, Tebib, Neji, Ben Dridi, Marie-Françoise, Kachboura, Salem, Amouri, Ahlem, Mokni, Mourad, Ben Arab, Saida, Dellagi, Koussay, Abdelhak, Sonia

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High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia von CHERIF, Wafa, RHOUMA, Faten Ben, KAABACHI, Naziha, TAHAR SFAR, Mohamed, DRIDI, Marie-Françoise Ben, TEBIB, Neji, ABDELHAK, Sonia, MESSAI, Habib, MILI, Amira, GRIBAA, Moez, KEFI, Rym, AYADI, Abdelkarim, BOUGHAMOURA, Lamia, CHEMLI, Jelel, SAAD, Ali

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Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III von Ben Rhouma, Faten, Azzouz, Hatem, Petit, François M., Khelifa, Mariem Ben, Chehida, Amel Ben, Nasrallah, Fehmi, Parisot, Frédéric, Lasram, Khaled, Kefi, Rym, Bouyacoub, Yosra, Romdhane, Lilia, Baussan, Christiane, Kaabachi, Naziha, Ben Dridi, Marie-Françoise, Tebib, Neji, Abdelhak, Sonia

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First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance von Esseghir, Nadia, Bouchlaka, Chiraz Souissi, Fredj, Sondess Hadj, Chehida, Amel Ben, Azzouz, Hatem, Fontaine, Monique, Tebib, Neji, Dridi, Marie Françoise Ben, Briand, Gilbert, Messaoud, Taieb, Elgaaied, Amel Ben Ammar, Kaabachi, Naziha

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Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population von Chkioua, Latifa, Khedhiri, Souhir, Ben Turkia, Hadhami, Chahed, Henda, Ferchichi, Salima, Ben Dridi, Marie Françoise, Laradi, Sandrine, Miled, Abdelhedi

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Markers of bone turnover in patients with type 1 Gaucher disease receiving long-term velaglucerase alfa enzyme replacement therapy von Zimran, Ari, Mehta, Atul, Gonzalez, Derlis E., Dridi, Marie-Françoise Ben, Lukina, Elena A., Chang, Peter, Olivier, Clement, Elstein, Deborah

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Clinical characteristics of type III Gaucher disease in children and adolescents enrolled in a trial of velaglucerase alfa von Dridi, Marie-Françoise Ben, El-Beshlawy, Amal, Marzouk, Iman, Bavdekar, Ashish, Chang, Peter, Mellgard, Björn, Tantawy, Azza A.G.

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Genetic diseases in the Tunisian population von Romdhane, Lilia, Abdelhak, Sonia

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La maladie de Rosai ― Dorfman: A propos de deux observations von TURKIA, Hadhami Ben, ROMDHANE, Manal Ben, ZITOUNI, Moncef, MNIF, Emna, BEN DRIDI, Marie Françoise, AZZOUZ, Hatem, CHEHIDA, Amal Ben, ABDELMOULA, Mohamed Slim, BENABDELAZIZ, Rim, TEBIB, Neji, MESSAOUD, Monia Ben, SAHTOUT, Samia, CHELLY, Inés

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Gaucher disease in Tunisia: High frequency of the most common mutations von Cherif, Wafa, Ben Turkia, Hadhami, Ben Rhouma, Faten, Riahi, Imene, Chemli, Jalel, Kefi, Rym, Messai, Habib, Amaral, Olga, Miranda, Maria Clara Sá, Caillaud, Catherine, Tebib, Neji, Ben Dridi, Marie Françoise, Abdelhak, Sonia

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Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria von Jellouli, Nadege Kammoun, Hadj Salem, Ikhlass, Ellouz, Emna, Kamoun, Zeineb, kamoun, Fatma, tlili, Abdelaziz, Kaabachi, Naziha, Triki, Chanez, Fakhfakh, Faiza

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Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease von Kammoun Jellouli, Nadege, Hadj Salem, Ikhlass, Ellouz, Emna, Louhichi, Nacim, tlili, Abdelaziz, Kammoun, Fatma, Triki, Chanez, Fakhfakh, Faiza

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A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): R... von Mistry, Pramod, Lukina, Elena, Dridi, Marie-Françoise Ben, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Peterschmitt, M. Judith

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A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): R... von Mistry, Pramod, Lukina, Elena, Dridi, Marie-Françoise Ben, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Peterschmitt, M. Judith

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A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene von Fendri-Kriaa, Nourhene, Hsairi, Ines, Kifagi, Chamseddine, Ellouze, Emna, Mkaouar-Rebai, Emna, Triki, Chahnez, Fakhfakh, Faiza

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