Academic Journal
Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy
| العنوان: | Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy |
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| المؤلفون: | Hammoud, M., Rodrigues, Alice, M. S., Assiri, I., Es-Said, Sabir, Lafhal, K., Najeh, S., Jakani, M., Imad, N., Bourrahouat, A., Ait Sab, I., Elqadiry, R., Nassih, H., Outzourit, A., Elamiri, M., Maoulainine, F., Slitine Elidrissi, N., Bennaoui, F., Bourous, M., Mrhar, S., Essaadouni, L., Stien, Didier, Rada, N., Bouskraoui, M., Houël, Emeline, Fdil, N. |
| المساهمون: | Université Cadi Ayyad Marrakech (UCA), Laboratoire de Biodiversité et Biotechnologies Microbiennes (LBBM), PIERRE FABRE-EDF (EDF)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Observatoire océanologique de Banyuls (OOB), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS) |
| المصدر: | ISSN: 1098-8823 ; Prostaglandins and Other Lipid Mediators ; https://hal.science/hal-04136431 ; Prostaglandins and Other Lipid Mediators, 2023, 168, pp.106751. ⟨10.1016/j.prostaglandins.2023.106751⟩. |
| بيانات النشر: | CCSD Elsevier |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Sphingolipidoses, Thin-Layer Chromatography, Tandem mass spectrometry, Sulfatides, Urine screening, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, [SDV.IB]Life Sciences [q-bio]/Bioengineering |
| الوصف: | International audience ; Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine. These pathologies represent a significant burden among Moroccan population, for which an easy access to enzymatic assays and genetic tests is not guaranteed. Parallel analytical methods thus have to be developed for preliminary screening. In this study, 107 patients were addressed to the metabolic platform of the Marrakesh Faculty of Medicine for diagnosis confirmation. Thin-Layer Chromatography was used as a first step to perform chemical profiling of the patients' urinary lipids, allowing 36% of the patients to be efficiently oriented towards the adequate enzymatic assay. UPLC-MS/MS analyses of urinary sulfatides excreted in urines patient had been used to control the reliability of TLC analysis and to obtain more accurate information related to the sulfatides isoforms. This analytical process combining TLC with UPLC-MS/MS has enabled rapid and appropriate patient management in a reduced time and with reduced resources. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1016/j.prostaglandins.2023.106751 |
| الاتاحة: | https://hal.science/hal-04136431 https://hal.science/hal-04136431v1/document https://hal.science/hal-04136431v1/file/Pour%20HAL.pdf https://doi.org/10.1016/j.prostaglandins.2023.106751 |
| Rights: | http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.23939DA4 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.prostaglandins.2023.106751 |
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