Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia
Nasrallah, Fahmi, Ben Chehida, Amel, Kraoua, Ichraf, Hadj-Taieb, Sameh, Sanhaji, Haifa, Tebib, Neji, Feki, Moncef, Kaabachi, Naziha
Published in Archives of disease in childhood (01.03.2021)
Published in Archives of disease in childhood (01.03.2021)
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Journal Article
Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
Chkioua, Latifa, Amri, Yessine, Sahli, Chayma, Rhouma, Ferdawes Ben, Chehida, Amel Ben, Tebib, Neji, Messaoud, Taieb, Abdennebi, Hassen Ben, Laradi, Sandrine
Published in Diabetology and metabolic syndrome (28.04.2023)
Published in Diabetology and metabolic syndrome (28.04.2023)
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Journal Article
Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria
Abdelaziz, Rim Ben, Chehida, Amel Ben, Chakchouk, Henda Kachouri, Messaoud, Sana Ben, Hajji, Hela, Boudabous, Hela, Ferchichi, Maherzia, Azzouz, Hatem, Tebib, Néji
Published in Journal of developmental and physical disabilities (01.12.2019)
Published in Journal of developmental and physical disabilities (01.12.2019)
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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
Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
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
Published in BMC pediatrics (19.12.2017)
Published in BMC pediatrics (19.12.2017)
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Journal Article
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
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
Published in Annals of human genetics (01.05.2024)
Published in Annals of human genetics (01.05.2024)
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Journal Article
Three siblings with gyrate atrophy of the choroid and retina: a case report
Rym, Maamouri, Molka, Ferchichi, Amel, Ben Chehida, Sameh, Hadj-Taieb, Monia, Cheour
Published in International journal of ophthalmology (18.12.2023)
Published in International journal of ophthalmology (18.12.2023)
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Journal Article
Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease
Chabchoub, Imen, Boudabbous, Hela, Maaloul, Ines, Ben Abdelaziz, Rim, Ben Chehida, Amel, Ayadi, Lobna, Kamoun, Thouraya, Tebib, Neji, Boudaouara, Tahia, Bekri, Soumeya, Hachicha, Mongia
Published in Journal of pediatric hematology/oncology (01.05.2020)
Published in Journal of pediatric hematology/oncology (01.05.2020)
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Journal Article
Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)
Ben Abdelaziz, Rim, Ben Chehida, Amel, Kachouri, Henda, Ben Messaoud, Sana, Ferchichi, Maherzia, Ben Ameur, Zeineb, Sassi, Yosra, Abdelmoula, Mohamed Slim, Azzouz, Hatem, Tebib, Néji
Published in Journal of Pediatric Endocrinology & Metabolism (28.07.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (28.07.2020)
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Journal Article
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation
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
Published in Genetical research (29.04.2019)
Published in Genetical research (29.04.2019)
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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
Renal Involvement in 2 Siblings With Cockayne Syndrome
Ben Chehida, Amel, Ghali, Narjess, Ben Abdelaziz, Rim, Ben Moussa, Fatma, Tebib, Neji
Published in Iranian journal of kidney diseases (01.05.2017)
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Published in Iranian journal of kidney diseases (01.05.2017)
Journal Article
Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
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
Published in BMC pediatrics (24.09.2018)
Published in BMC pediatrics (24.09.2018)
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Journal Article
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease
Kallabi, Fakhri, Ben Salah, Ghada, Ben Chehida, Amel, Tabebi, Mouna, Felhi, Rahma, Ben Turkia, Hadhami, Tebib, Neji, Keskes, Leila, Kamoun, Hassen
Published in Biochemistry and cell biology (01.06.2016)
Published in Biochemistry and cell biology (01.06.2016)
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Journal Article
1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance
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
Published in Clinical laboratory (Heidelberg) (2015)
Published in Clinical laboratory (Heidelberg) (2015)
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Journal Article
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III
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
Published in Molecular biology reports (01.07.2013)
Published in Molecular biology reports (01.07.2013)
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Journal Article
First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance
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
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
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Book Chapter
Journal Article
A Case of Infantile Cataract and Neonatal Hypoglycemia
Maamouri, Rym, Ferchichi, Molka, Chehida, Amel Ben, Cheour, Monia
Published in Journal of current ophthalmology (01.07.2023)
Published in Journal of current ophthalmology (01.07.2023)
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Journal Article
Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
Ben Abdelaziz, Rim, Tangour, Nizar, Ben Chehida, Amel, Haj Taieb, Sameh, Feki, Moncef, Azzouz, Hatem, Tebib, Neji
Published in Journal of Pediatric Endocrinology & Metabolism (27.08.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (27.08.2020)
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Journal Article
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients
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
Published in Neuropediatrics (01.02.2019)
Published in Neuropediatrics (01.02.2019)
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Journal Article