Search Results - "Turkia, Hadhami Ben"

Gastrointestinal Panel Performance for the Diagnosis of Acute Gastroenteritis in Pediatric Patients by Sameer, Marwa, Masood, Abdulrahman, Almutawea, Lateefa, Fox, Gabriel, Loni, Ramaning, Ahmed, Amira, Ben Turkia, Hadhami, Abdulsamad, Maryam, Mary, Imelda

“…Various methods are used to identify the causative organisms of acute gastroenteritis (AGE) in children. The gastrointestinal (GI) panel has the potential to…”
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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome by Chkioua, Latifa, Boudabous, Hela, Jaballi, Ibtissem, Grissa, Oussama, Turkia, Hadhami Ben, Tebib, Neji, Laradi, Sandrine

“…The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease…”
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Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient by Kallabi, Fakhri, Hadj Salem, Ikhlass, Ben Chehida, Amel, Ben Salah, Ghada, Ben Turkia, Hadhami, Tebib, Neji, Keskes, Leila, Kamoun, Hassen

“…•We identify de novo splice site mutation in ABCD1 gene.•We study the functional effect of this mutation on the RNA splicing by RT-PCR.•We found two aberrant…”
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Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease by Tantawy, Azza A. G., El-Beshlawy, Amal, Marzouk, Iman, Bavdekar, Ashish, Qin, Yulin, Mellgard, Björn, Ben Turkia, Hadhami

“…Gaucher disease (GD) is an autosomal recessive lipid storage disorder, caused by deficient activity of the lysosomal enzyme β-glucocerebrosidase, resulting in…”
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Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial by 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

“…IMPORTANCE: Gaucher disease type 1 is characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. A safe, effective oral therapy is…”
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Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report by Alabbasi, Lana, Ben Turkia, Hadhami, Nass, Maram, Sahin, Ibrahim

“…Carnitine palmitoyltransferase II deficiency is a rare metabolic disorder affecting the mitochondrial oxidation of fatty acids. We present a case of the…”
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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 by 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.

“…Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of…”
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Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4 years in phase 3 trials by Zimran, Ari, Elstein, Deborah, Gonzalez, Derlis E., Lukina, Elena A., Qin, Yulin, Dinh, Quinn, Turkia, Hadhami Ben

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Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme by Chkioua, Latifa, Amri, Yessine, Chaima, Sahli, Fenni, Ferdawes, Boudabous, Hela, Ben Turkia, Hadhami, Messaoud, Taieb, Tebib, Neji, Laradi, Sandrine

“…Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase (FUCA1) activity, leading to the accumulation of…”
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Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients by 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

“…Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase…”
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Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome by Abduljalil, Razan, Ben Turkia, Hadhami, Fakhroo, Aysha, Skrypnyk, Cristina

“…Mitochondrial depletion syndromes are well established causes of liver failure in infants. Hepatocerebral variant related to MPV17 gene defect is characterized…”
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To What Extent Does Arginine Reduce the Risk of Developing Necrotizing Enterocolitis? by Nasef, Minoosh, Ben Turkia, Hadhami, Haider Ali, Ali M, Mahdawi, Esam, Nair, Arun

“…Necrotizing enterocolitis (NEC) and neonatal sepsis are polar opposite diseases that are commonly encountered in the NICU. Concerning the frequency of these…”
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Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme by Chkioua, Latifa, Amri, Yessine, Chaima, Sahli, Fenni, Ferdawes, Boudabous, Hela, Ben Turkia, Hadhami, Messaoud, Taieb, Tebib, Neji, Laradi, Sandrine

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1 by 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.

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Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double‐blind, multinational, Phase 3 study by 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

“…Type 1 Gaucher disease (GD1), resulting from glucocerebrosidase deficiency, leads to splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone…”
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Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis by 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

“…Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and…”
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High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness by 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

“…The outcome of Kawasaki disease (KD) depends on cardiovascular complications (CVCs). This study aimed to explore diagnostic features and CVCs in Tunisian…”
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Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease by 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

“…Enzyme replacement therapy for Gaucher disease (GD) has been available since 1991. This study compared the efficacy and safety of velaglucerase alfa with…”
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Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease by Pastores, Gregory M., Turkia, Hadhami Ben, Gonzalez, Derlis E., Ida, Hiroyuki, Tantawy, Azza A.G., Qin, Yulin, Qiu, Yongchang, Dinh, Quinn, Zimran, Ari

“…Anti-drug antibodies may develop with biological therapies, possibly leading to a reduction of treatment efficacy and to allergic and other adverse reactions…”
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Particularité de la cystinose infantile chez l'enfant tunisien by Jellouli, Manel, Turkia, Hadhami Ben, Abidi, Kamel, Hammi, Yosra, Gargah, Tahar

“…La cystinose est une maladie rare qui résulte d'un défaut d'expression de la cystinosine transporteur de la cystine du lysosome. La forme infantile est la plus…”
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