الرئيسية › دليل الباحثين › Amel Ben Chehida
Amel Ben Chehida
الانتماء : Tunis University · Hôpital La Rabta · Faculté de médecine de Tunis · Tunis El Manar University
- 64منشورات (انتماء تونسي)
- 86مجموع المنشورات
- 395الاستشهادات
- 10مؤشر h
الملف البحثي
لدى Amel Ben Chehida 64 منشور(ات) مفهرسة (2004–2026). تُنشر أعماله أساسًا في «Archives de Pédiatrie»، «Annales d Endocrinologie» و«La Revue de Médecine Interne». أكثر مقالاته استشهادًا هو «Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study» (2017)، وقد استُشهد به 114 مرة. 17 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في فرنسا، الولايات المتحدة.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Amino Acid Enzymes and Metabolism
المنشورات (64)
- Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort
- Case Report: Primary bile acid synthesis defect: first cases series from Tunisia
- Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case
- Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype
- Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome
- Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children
- Impact de la maladie de Gaucher sur la fertilité et la grossesse : une étude rétrospective multicentrique
- La maladie de gaucher arrivée à l’âge adulte : étude rétrospective multicentrique
- Transition pédiatrie-médecine d’adulte au cours de la Maladie de Gaucher de type I : Quelles leçons tirer de “l’expérience patient” ?
- POS1426 BONE INVOLVEMENT IN GAUCHER DISEASE: DATA FROM THE TUNISIAN REGISTRY
- Bone involvement in Gaucher disease: Data from a North African registry
- Bone involvement in Gaucher disease: Data from a North African registry
- Neuropathie optique ischémique antérieure aiguë : une complication rare révélant la fragilité vasculaire dans la maladie de Fabry
- Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
- Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
- Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques : Caractéristiques cliniques d’une série pédiatrique tunisienne.
- Craniopharyngiome : tumeur bénigne à mauvais pronostic
- Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
- 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
- A Case of Infantile Cataract and Neonatal Hypoglycemia
- Adrénoleucodystrophie liée à l’X : étude clinique et génétique d’une série de patients tunisiens
- Manifestations endocriniennes dans les mitochondriopathies
- Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients
- Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)
- Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
- Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia
- Une cause insolite d’insuffisance surrénalienne : le syndrome de MEGDEL
- Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease
- A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide withRAF1S259Y neomutation
- Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria
- 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
- Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients
- High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness
- Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
- Factors predictive of prognosis of infantile spasms. A retrospective study in a low-income country
- Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
- Renal Involvement in 2 Siblings With Cockayne Syndrome.
- Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome
- A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients
- A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease
- A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome
- Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient
- Complications rénales dans la glycogénose de type 1 : quelles implications pratiques ?
- Les maladies héréditaires du métabolisme en Tunisie: défis, acquis, espoirs
- Évaluation de la douleur de la personne polyhandicapée : adaptation en dialecte tunisien de l’échelle San Salvadour
- SFP P-135 – La mucoviscidose chez l’enfant Tunisien
- Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III
- Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene
- Étude moléculaire du gène ABCD1 chez 4 familles tunisiennes atteintes d’adrénoleucodystrophie
- First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance
- La maladie de Rosai – Dorfman : enjeux thérapeutiques à propos de 2 observations
- P340 - Maladie de Kawasaki : à propos de 12 cas
- P275 - La maladie de Morquio : à propos de 9 observations
- P276 - Complications vasculaires de l’homocystinurie classique : à propos de 6 observations
- Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease
- Cholestase néonatale révélatrice d’un phénotype intermédiaire d’une maladie de Gaucher type 2
- Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie
- Lipodystrophie congénitale généralisée de type 1 avec atteinte neurologique
- Glycogen storage disease type I in Tunisia: An epidemiological analysis
- Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis
- P0529 ACUTE DIARRHOEAL DISEASE: EXPERIENCE OF TUNISIAN PRIVATE PAEDIATRICIANS
- P1018 GASTROESOPHAGEAL REFLUX: EXPERIENCE OF TUNISIAN PRIVATE PAEDIATRICIANS
- P0529 ACUTE DIARRHOEAL DISEASE: EXPERIENCE OF TUNISIAN PRIVATE PAEDIATRICIANS
- P1018 GASTROESOPHAGEAL REFLUX: EXPERIENCE OF TUNISIAN PRIVATE PAEDIATRICIANS
مجلات النشر
- Archives de Pédiatrie × 9
- Annales d Endocrinologie × 5
- La Revue de Médecine Interne × 4
- Journal of Pediatric Gastroenterology and Nutrition × 4
- BMC Pediatrics × 3
- Journal of Pediatric Endocrinology and Metabolism × 3
المنشورات حسب السنة
- 20263
- 202510
- 20244
- 20234
- 20221
- 20205
- 20193
- 20185
- 20172
- 20163
التعاون العلمي
المؤسسات الشريكة : Hôpital Mongi Slim · Institut Pasteur de Tunis · Hopital Universitaire Hedi Chaker · Faculty of Medicine of Sfax · University of Sfax
بلدان المؤلفين المشاركين : فرنسا · الولايات المتحدة
المؤلفون المشاركون
- Néji Tebib
- Hatem Azzouz
- M.S. Abdelmoula
- Rim Ben Abdelaziz
- Hela Boudabous
- Hadhami Ben Turkia
- Safa Khatrouch
- Naziha Kaabachi
- M.F. Ben Dridi
- Sonia Abdelhak
- M. F. Ben Dridi
- Sana Ben Messaoud
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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