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Hela Boudabous
Affiliation : Tunis University · Hôpital La Rabta · Faculté de médecine de Tunis · Tunis El Manar University
- 37Publications (affiliation in Tunisia)
- 45Total publications
- 238Citations
- 7h-index
Research profile
Hela Boudabous has 37 indexed publications (2010–2026). Their work appears mainly in “La Revue de Médecine Interne”, “Research Square” and “Annales d Endocrinologie”. Their most cited article, “Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study” (2017), has been cited 114 times. 12 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in France.
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Create my free profile Add my publicationsResearch areas
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Biomedical Research and Pathophysiology
- Vasculitis and related conditions
Publications (37)
- 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
- Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome
- Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights
- La maladie de gaucher arrivée à l’âge adulte : étude rétrospective multicentrique
- 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
- Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa
- Identification of a novel mutation of Alpha-L-iduronidase gene in Tunisian families
- Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques : Caractéristiques cliniques d’une série pédiatrique tunisienne.
- Adrénoleucodystrophie liée à l’X : étude clinique et génétique d’une série de patients tunisiens
- Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome
- Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
- Les manifestations rénales dans la maladie de Fabry : à propos de 6 observations
- Large-scale screening of lipase acid deficiency in at risk population
- Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
- Ophthalmic and Genetics Profiles of Cystinosis in Tunisian Patients
- Molecular Characterization of CNTS Mutations in Tunisian Patients with Ocular Cystinosis
- Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
- The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
- Une cause insolite d’insuffisance surrénalienne : le syndrome de MEGDEL
- Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria
- Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency–affected Sibs
- A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis
- 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
- Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
- 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
- Variabilité phénotypique de la maladie de Niemann Pick de type B de l’adulte
- Grossesse et artérite de Takayasu
- Atteinte ORL au cours de la granulomatose de Wegener
- À propos de six cas de paragangliome cervical
Publication venues
- La Revue de Médecine Interne × 5
- Research Square × 3
- Annales d Endocrinologie × 2
- Diagnostic Pathology × 2
- BMC Medical Genomics × 2
- Journal of Pediatric Hematology/Oncology × 2
Publications per year
- 20263
- 20256
- 20243
- 20231
- 20223
- 20215
- 20202
- 20192
- 20187
- 20172
Collaborations
Partner institutions : University of Monastir · Hôpital Mongi Slim · Hôpital Charles-Nicolle · Hôpital Farhat Hached · Children's Hospital
Co-authors’ countries : France
Co-authors
- Amel Ben Chehida
- Néji Tebib
- Latifa Chkioua
- Rim Ben Abdelaziz
- M.S. Abdelmoula
- Hadhami Ben Turkia
- Safa Khatrouch
- Hatem Azzouz
- Salima Ferchichi
- Sana Ben Messaoud
- Yessine Amri
- S. Hamzaoui
Bibliographic data from OpenAlex (open database).
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