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Safa Khatrouch
Affiliation : Tunis University · Hôpital La Rabta · Faculté de médecine de Tunis · Tunis El Manar University
- 13Publications (affiliation in Tunisia)
- 13Total publications
- 3Citations
- 1h-index
Research profile
Safa Khatrouch has 13 indexed publications (2022–2026). Their work appears mainly in “La Revue de Médecine Interne”, “Mitochondrion” and “Frontiers in Pediatrics”. Their most cited article, “Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tö” (2025), has been cited 3 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
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
Publications (13)
- 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
- 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
- Atteinte osseuse au cours de la maladie de Gaucher : données issues d’un registre nord-africain
- Characteristics and predictors of outcome in children with severe acute bronchiolitis: A 10-yearexperience
- Manifestations endocriniennes dans les mitochondriopathies
Publication venues
- La Revue de Médecine Interne × 4
- Mitochondrion × 1
- Frontiers in Pediatrics × 1
- JIMD Reports × 1
- Clinical Genetics × 1
- Annals of the Rheumatic Diseases × 1
Publications per year
- 20263
- 20258
- 20241
- 20221
Collaborations
Partner institutions : Hôpital Mongi Slim · Children's Hospital · National Institute of Neurology Mongi-Ben Hamida · Institut Pasteur de Tunis · Centre National de la Recherche Scientifique
Co-authors’ countries : France
Co-authors
- Amel Ben Chehida
- M.S. Abdelmoula
- Hela Boudabous
- Mouna Zribi
- Kamel Bouslama
- Sana Toujani
- S. Hamzaoui
- Zeineb Meddeb
- C. Abdelkefi
- T. Larbi
- H. Boudabous
- Nour Ben Younes
Bibliographic data from OpenAlex (open database).
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