Search Results - "Amel, Ben Chehida"

Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia by Nasrallah, Fahmi, Ben Chehida, Amel, Kraoua, Ichraf, Hadj-Taieb, Sameh, Sanhaji, Haifa, Tebib, Neji, Feki, Moncef, Kaabachi, Naziha

“…First symptoms appeared within the first week of life in 75% of patients and within 3 months in 95.7% patients. In our series, diagnosis was established based…”
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Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b by Chkioua, Latifa, Amri, Yessine, Sahli, Chayma, Rhouma, Ferdawes Ben, Chehida, Amel Ben, Tebib, Neji, Messaoud, Taieb, Abdennebi, Hassen Ben, Laradi, Sandrine

“…Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by…”
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Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria by Abdelaziz, Rim Ben, Chehida, Amel Ben, Chakchouk, Henda Kachouri, Messaoud, Sana Ben, Hajji, Hela, Boudabous, Hela, Ferchichi, Maherzia, Azzouz, Hatem, Tebib, Néji

“…Limited published research has evaluated mental health in parents of children with phenylketonuria (PKU) and their coping strategies. We aimed to assess…”
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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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Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study by Ben Abdelaziz, Rim, Hafsi, Habiba, Hajji, Hela, Boudabous, Hela, Ben Chehida, Amel, Mrabet, Ali, Boussetta, Khadija, Barsaoui, Sihem, Sammoud, Azza, Hamzaoui, Mourad, Azzouz, Hatem, Tebib, Nnji

“…Background Peripheral venous catheterization (PVC) is frequently used in children. This procedure is not free from potential complications. Our purpose was to…”
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Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment by Khabou, Boudour, Kallabi, Fakhri, Abdelaziz, Rim Ben, Maaloul, Ines, Aloulou, Hajer, Chehida, Amel ben, Kammoun, Thouraya, Barbu, Veronique, Boudawara, Tahya Sellami, Fakhfakh, Faiza, Khemakhem, Bassem, Sahnoun, Olfa Siala

“…Many inherited conditions cause hepatocellular cholestasis in infancy, including progressive familial intrahepatic cholestasis (PFIC), a heterogeneous group of…”
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Three siblings with gyrate atrophy of the choroid and retina: a case report by Rym, Maamouri, Molka, Ferchichi, Amel, Ben Chehida, Sameh, Hadj-Taieb, Monia, Cheour

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Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease by Chabchoub, Imen, Boudabbous, Hela, Maaloul, Ines, Ben Abdelaziz, Rim, Ben Chehida, Amel, Ayadi, Lobna, Kamoun, Thouraya, Tebib, Neji, Boudaouara, Tahia, Bekri, Soumeya, Hachicha, Mongia

“…Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening hyperinflammatory condition that may be triggered by infections, autoimmune and…”
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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation by Jaouadi, Hager, Chehida, Amel Ben, Kraoua, Lilia, Etchevers, Heather C, Argiro, Laurent, Kasdallah, Nadia, Blibech, Sonia, Delague, Valérie, Lévy, Nicolas, Tebib, Néji, Mrad, Ridha, Abdelhak, Sonia, Benkhalifa, Rym, Zaffran, Stéphane

“…Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway…”
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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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Renal Involvement in 2 Siblings With Cockayne Syndrome by Ben Chehida, Amel, Ghali, Narjess, Ben Abdelaziz, Rim, Ben Moussa, Fatma, Tebib, Neji

“…Renal involvement in Cockayne syndrome is rare and its pathogenesis is yet unknown. We report herein 2 cases (siblings) with Cockayne syndrome type A confirmed…”
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Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study by Ben Abdelaziz, Rim, Hafsi, Habiba, Hajji, Hela, Boudabous, Hela, Ben Chehida, Amel, Mrabet, Ali, Boussetta, Khadija, Barsaoui, Sihem, Sammoud, Azza, Hamzaoui, Mourad, Azzouz, Hatem, Tebib, Néji

“…Following publication of the original article [1], one of the authors flagged that the title of the article was submitted (incorrectly) with "Full title:" at…”
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A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease by Kallabi, Fakhri, Ben Salah, Ghada, Ben Chehida, Amel, Tabebi, Mouna, Felhi, Rahma, Ben Turkia, Hadhami, Tebib, Neji, Keskes, Leila, Kamoun, Hassen

“…X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes an ATP-binding cassette transporter…”
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1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance by Esseghir, Nadia, Bouchlaka, Chiraz Souissi, Fredj, Sondess Hadj, Ben Chehida, Amel, Azzouz, Hatem, Fontaine, Monique, Tebib, Neji, Briand, Gilbert, Messaoud, Taieb, Elgaaied, Amel Ben Ammar, Kaabachi, Naziha

“…Lysinuric protein intolerance is an inherited aminoaciduria caused by defective cationic amino acid transport. It is an autosomal recessive disease caused by…”
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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 by 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

“…Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding…”
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First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance by 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

“…Lysinuric protein intolerance (LPI, MIM# 222700) is an inherited aminoaciduria caused by defective transport of cationic amino acids (CAAs; arginine, lysine,…”
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A Case of Infantile Cataract and Neonatal Hypoglycemia by Maamouri, Rym, Ferchichi, Molka, Chehida, Amel Ben, Cheour, Monia

“…To describe a case of lamellar cataract in a child with a history of neonatal hypoglycemia and illustrate the importance of meticulous history-taking in…”
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Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients by Ben Chehida, Amel, Ben Messaoud, Sana, Ben Abdelaziz, Rim, Ben Ali, Nadia, Boudabous, Hela, Ben Abdelaziz, Ines, Ben Ameur, Zeineb, Sassi, Yosra, Kaabachi, Neziha, Abdelhak, Sonia, Abdelmoula, Mohamed Slim, Fradj, Mohamed, Azzouz, Hatem, Tebib, Neji

“…Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII). We conducted a longitudinal study…”
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A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients by Ben Chehida, Amel, Ben Messaoud, Sana, Ben Abdelaziz, Rim, Mansouri, Hajer, Boudabous, Hela, Hakim, Kaouthar, Ben Ali, Nadia, Ben Ameur, Zeineb, Sassi, Yosra, Kaabachi, Neziha, Abdelhak, Sonia, Abdelmoula, Mohamed Slim, Azzouz, Hatem, Tebib, Neji

“…Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic…”
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Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques : Caractéristiques cliniques d’une série pédiatrique tunisienne by Jbebli, Elhem, Jbeli, Yosra, Amdouni, Rym, Ben Abdelaziz, Rim, Boudabous, Héla, Ben Chehida, Amel, Abdelmoula, Slim

“…Introduction : L’intolérance aux protéines dibasiques (IPD) est une maladie héréditaire rare causée par un défaut du transport membranaire des acides aminés…”
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