الرئيسية › دليل الباحثين › Imane Assiri
Imane Assiri
الانتماء : Cadi Ayyad University
- 31منشورات (انتماء مغربي)
- 34مجموع المنشورات
- 25الاستشهادات
- 3مؤشر h
الملف البحثي
لدى Imane Assiri 31 منشور(ات) مفهرسة (2022–2026). تُنشر أعماله أساسًا في «Molecular Genetics and Metabolism»، «Analytical Biochemistry» و«Journal of Pediatric Endocrinology and Metabolism». أكثر مقالاته استشهادًا هو «Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients» (2023)، وقد استُشهد به 10 مرة. 21 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في فرنسا.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Trace Elements in Health
- Sphingolipid Metabolism and Signaling
المنشورات (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
مجلات النشر
- 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
المنشورات حسب السنة
- 20266
- 20259
- 20246
- 20239
- 20221
التعاون العلمي
المؤسسات الشريكة : 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
بلدان المؤلفين المشاركين : فرنسا
المؤلفون المشاركون
- 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
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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