Amel Ben-Chehida

Amel Ben-Chehida

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Amel Ben-Chehida

Amel Ben-Chehida

Publications by authors named "Amel Ben-Chehida"

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17Publications

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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.

J Pediatr Endocrinol Metab 2018 Aug 15. Epub 2018 Aug 15.

Research Laboratory LR12SP02, Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia.

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August 2018

High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness.

J Trop Pediatr 2018 Jul 5. Epub 2018 Jul 5.

Pediatric Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, 1007 Jabberi, Jebal Lakhdhar, Tunis, Tunisia.

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July 2018

Renal Involvement in 2 Siblings With Cockayne Syndrome.

Iran J Kidney Dis 2017 May;11(3):253-255

Department of Pediatrics, La Rabta Hospital; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

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May 2017

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

J Clin Immunol 2016 08 25;36(6):547-54. Epub 2016 May 25.

Laboratory of Transmission, Control and Immunobiology of Infections (LTCII), LR11IPT02, Institut Pasteur de Tunis, Pasteur, 1002, Tunis-Belvedere, Tunisia.

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August 2016

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.

Biochem Cell Biol 2016 06 18;94(3):265-9. Epub 2016 Mar 18.

a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.

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June 2016

A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.

Eur J Med Genet 2016 Jan 9;59(1):16-9. Epub 2015 Dec 9.

Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia.

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January 2016

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Neurosci Res 2015 Aug 31;97:7-12. Epub 2015 Mar 31.

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia; Service de Génétique Médicale, Hôpital Hédi Chaker Sfax, Tunisia.

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August 2015

[Renal involvement in glycogen storage disease type 1: Practical issues].

Nephrol Ther 2015 Jul 6;11(4):240-5. Epub 2015 May 6.

Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.

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July 2015

Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.

Neurodegener Dis 2013 3;12(4):207-11. Epub 2013 May 3.

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Sfax, Tunisia.

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April 2014