Gastrointestinal Panel Performance for the Diagnosis of Acute Gastroenteritis in Pediatric Patients
Sameer, Marwa, Masood, Abdulrahman, Almutawea, Lateefa, Fox, Gabriel, Loni, Ramaning, Ahmed, Amira, Ben Turkia, Hadhami, Abdulsamad, Maryam, Mary, Imelda
Published in Curēus (Palo Alto, CA) (08.06.2024)
Published in Curēus (Palo Alto, CA) (08.06.2024)
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Journal Article
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Chkioua, Latifa, Boudabous, Hela, Jaballi, Ibtissem, Grissa, Oussama, Turkia, Hadhami Ben, Tebib, Neji, Laradi, Sandrine
Published in Diagnostic pathology (29.05.2018)
Published in Diagnostic pathology (29.05.2018)
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Journal Article
Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient
Kallabi, Fakhri, Hadj Salem, Ikhlass, Ben Chehida, Amel, Ben Salah, Ghada, Ben Turkia, Hadhami, Tebib, Neji, Keskes, Leila, Kamoun, Hassen
Published in Neuroscience research (01.08.2015)
Published in Neuroscience research (01.08.2015)
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Journal Article
Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Tantawy, Azza A. G., El-Beshlawy, Amal, Marzouk, Iman, Bavdekar, Ashish, Qin, Yulin, Mellgard, Björn, Ben Turkia, Hadhami
Published in Journal of inborn errors of metabolism and screening (2018)
Published in Journal of inborn errors of metabolism and screening (2018)
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Journal Article
Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial
Mistry, Pramod K, Lukina, Elena, Ben Turkia, Hadhami, 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
Published in JAMA : the journal of the American Medical Association (17.02.2015)
Published in JAMA : the journal of the American Medical Association (17.02.2015)
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Journal Article
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
Cassiman, David, Packman, Seymour, Bembi, Bruno, Turkia, Hadhami Ben, Al-Sayed, Moeenaldeen, Schiff, Manuel, Imrie, Jackie, Mabe, Paulina, Takahashi, Tsutomu, Mengel, Karl Eugen, Giugliani, Roberto, Cox, Gerald F.
Published in Molecular genetics and metabolism (01.07.2016)
Published in Molecular genetics and metabolism (01.07.2016)
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Journal Article
Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4 years in phase 3 trials
Zimran, Ari, Elstein, Deborah, Gonzalez, Derlis E., Lukina, Elena A., Qin, Yulin, Dinh, Quinn, Turkia, Hadhami Ben
Published in Blood cells, molecules, & diseases (01.02.2018)
Published in Blood cells, molecules, & diseases (01.02.2018)
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Journal Article
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
Chkioua, Latifa, Amri, Yessine, Chaima, Sahli, Fenni, Ferdawes, Boudabous, Hela, Ben Turkia, Hadhami, Messaoud, Taieb, Tebib, Neji, Laradi, Sandrine
Published in BMC medical genomics (23.08.2021)
Published in BMC medical genomics (23.08.2021)
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Journal Article
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
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
Published in Diagnostic pathology (03.06.2011)
Published in Diagnostic pathology (03.06.2011)
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Journal Article
Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome
Abduljalil, Razan, Ben Turkia, Hadhami, Fakhroo, Aysha, Skrypnyk, Cristina
Published in Case Reports in Hepatology (20.06.2023)
Published in Case Reports in Hepatology (20.06.2023)
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Journal Article
To What Extent Does Arginine Reduce the Risk of Developing Necrotizing Enterocolitis?
Nasef, Minoosh, Ben Turkia, Hadhami, Haider Ali, Ali M, Mahdawi, Esam, Nair, Arun
Published in Curēus (Palo Alto, CA) (23.09.2023)
Published in Curēus (Palo Alto, CA) (23.09.2023)
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Journal Article
Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
Chkioua, Latifa, Amri, Yessine, Chaima, Sahli, Fenni, Ferdawes, Boudabous, Hela, Ben Turkia, Hadhami, Messaoud, Taieb, Tebib, Neji, Laradi, Sandrine
Published in BMC medical genomics (15.12.2021)
Published in BMC medical genomics (15.12.2021)
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Journal Article
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1
Mistry, Pramod K., Balwani, Manisha, Baris, Hagit N., Turkia, Hadhami Ben, Burrow, T. Andrew, Charrow, Joel, Cox, Gerald F., Danda, Sumita, Dragosky, Marta, Drelichman, Guillermo, El-Beshlawy, Amal, Fraga, Cristina, Freisens, Selena, Gaemers, Sebastiaan, Hadjiev, Evgueniy, Kishnani, Priya S., Lukina, Elena, Maison-Blanche, Pierre, Martins, Ana Maria, Pastores, Gregory, Petakov, Milan, Peterschmitt, M. Judith, Rosenbaum, Hanna, Rosenbloom, Barry, Underhill, Lisa H., Cox, Timothy M.
Published in Blood cells, molecules, & diseases (01.07.2018)
Published in Blood cells, molecules, & diseases (01.07.2018)
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Journal Article
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double‐blind, multinational, Phase 3 study
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
Published in American journal of hematology (01.03.2013)
Published in American journal of hematology (01.03.2013)
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Journal Article
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
Chkioua, Latifa, Amri, Yessine, Saheli, Chaima, Mili, Wassila, Mabrouk, Sameh, Chabchoub, Imen, Boudabous, Hela, Azzouz, Wissem Ben, Turkia, Hadhami Ben, Ferchichi, Salima, Tebib, Neji, Massoud, Taieb, Ghorbel, Mohamed, Laradi, Sandrine
Published in Diagnostic pathology (06.05.2022)
Published in Diagnostic pathology (06.05.2022)
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Journal Article
High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness
Ben Chehida, Amel, Ben Messaoud, Sana, Ben Abdelaziz, Rim, Boudabous, Hela, Oujra, Mariem, Ben Turkia, Hadhami, Abdelmoula, Mohamed Slim, Azzouz, Hatem, Hakim, Kaothar, Tebib, Neji
Published in Journal of tropical pediatrics (1980) (01.06.2019)
Published in Journal of tropical pediatrics (1980) (01.06.2019)
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Journal Article
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease
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
Published in American journal of hematology (01.03.2013)
Published in American journal of hematology (01.03.2013)
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Journal Article
Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease
Pastores, Gregory M., Turkia, Hadhami Ben, Gonzalez, Derlis E., Ida, Hiroyuki, Tantawy, Azza A.G., Qin, Yulin, Qiu, Yongchang, Dinh, Quinn, Zimran, Ari
Published in Blood cells, molecules, & diseases (01.07.2016)
Published in Blood cells, molecules, & diseases (01.07.2016)
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Journal Article
Particularité de la cystinose infantile chez l'enfant tunisien
Jellouli, Manel, Turkia, Hadhami Ben, Abidi, Kamel, Hammi, Yosra, Gargah, Tahar
Published in The Pan African medical journal (2015)
Published in The Pan African medical journal (2015)
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