Accueil › Annuaire des chercheurs › Imane Assiri
Imane Assiri
Affiliation : Cadi Ayyad University
- 31Publications (affiliation marocaine)
- 34Publications au total
- 25Citations
- 3Indice h
Profil de recherche
Imane Assiri compte 31 publications référencées (2022–2026). Ses travaux paraissent principalement dans « Molecular Genetics and Metabolism », « Analytical Biochemistry » et « Journal of Pediatric Endocrinology and Metabolism ». Son article le plus cité, « Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients » (2023), a été cité 10 fois. 21 de ces publications datent des trois dernières années d’activité. Ses travaux sont cosignés avec au moins 12 chercheurs, notamment dans des établissements de France.
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Créer mon profil gratuit Ajouter mes publicationsDomaines de recherche
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Trace Elements in Health
- Sphingolipid Metabolism and Signaling
Publications (31)
- Novel HEXB variant and first evidence of urinary Gb4 isoforms in Sandhoff disease: Biochemical and bioinformatic characterization in two Moroccan families
- Urinary sphingomyelin measurement: A simple tool for diagnosis and monitoring in Niemann-Pick disease type A
- Metabolomic profiling of rosa damascena mill. Hydroethanolic extracts reveals complex chelating signatures relevant to copper overload disorders
- Hereditary tyrosinemia in Morocco: Clinical spectrum, diagnostic challenges, and genetic insights
- Detection of Gb3 and lactosylceramide in non-Fabry urine samples: Insights into the biochemical landscape of lysosomal disorders
- From guidelines to real-world practice: clinical, biochemical, and genetic insights in a series of Moroccan patients with acid sphingomyelinase deficiency
- Exploring inherited vitamin B responsive disorders in the Moroccan population: cutting-edge diagnosis via GC-MS profiling
- Sialic acid-Retaled disorders: Advances in pathophysiology, diagnostic challenges, and differentiating mimics
- Identification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco
- Assessment of trace elements in the serum of epileptic patients with inherited metabolic diseases: Focus on zinc and copper
- First comprehensive identification of urinary sphingomyelin species in Niemann-Pick disease patients using UHPLC-MS/MS
- The bioactive potential of Rosa damascena mill: Preventive chelating effects and the role of ecosystem dynamics in inherited diseases
- Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach
- The evaluation of sulfatides in urine and dried blood spots as potential biomarkers for neurodegenerative diseases
- Altered ganglioside pattern in the infantile form of GM1 gangliosidosis identified using reversed-phase chromatography combined with thin-layer chromatography
- Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)
- Molecular analysis of mucopolysaccharidosis type I in Morocco: Identification of novel mutation
- The utilization of a combination of TLC-UHPL/MS-MS and molecular networking in the assessment and prediction of Fabry and Sandhoff diseases
- A simple, non-invasive method for the diagnosis of glycogen storage disease type III in two patients with a similar facial appearance
- The role of GC–MS in organic acidurias diagnosis in Moroccan population
- Clinical features of Wilson disease in Moroccan cohort
- Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients
- Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy
- Isolated lactosylceramide storage: Is it the consequence of a specific protein deficiency?
- Next-generation sequencing and high-throughput enzymolome-based panel screening of suspected lysosomal disease cases identifies multiple disease-causing variants in two genes underlying different lysosomal diseases: A source of clinical and metabolic variability?
- Timely diagnosis of Niemann Pick disease using thin layer chromatography with identification of SMPD1 mutations causing NPD type A/B among Moroccan population
- The role of combination between TLC and UHPL/MS-MS in the diagnosis and prognosis of metachromatic leukodystrophy
- Diagnosis of vitamin B deficiencies inducing inherited metabolic diseases (IMD) using GC-MS
- Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening
- The case of glycosylation defects mimicking Wilson disease: A case report
- Determination of urinary mannose by gas liquid chromatography mass spectrometry using a dried urine spot
Revues de publication
- Molecular Genetics and Metabolism × 23
- Analytical Biochemistry × 1
- Journal of Pediatric Endocrinology and Metabolism × 1
- Turkish Journal of Biochemistry × 1
- Clinica Chimica Acta × 1
- Molecular Biology Reports × 1
Publications par année
- 20266
- 20259
- 20246
- 20239
- 20221
Collaborations
Établissements partenaires : Centre Hospitalier Universitaire Mohammed VI · Instituts Supérieurs des Professions Infirmières et Techniques de Santé · Centre National de la Recherche Scientifique · Sorbonne Université · Laboratoire de Biodiversité et Biotechnologies Microbiennes
Pays des co-auteurs : France
Co-auteurs
- Naı̈ma Fdil
- Samira Najeh
- Miloud Hammoud
- Karima Lafhal
- Es‐Said Sabir
- Maroua Jakani
- Abdelaati Berrachid
- Sana El Foutat
- My Ahmed Elamiri
- Aïcha Bourrahouat
- Lhoucine Gebrati
- Mounir Bourrous
Données bibliographiques issues d’OpenAlex (base ouverte).
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