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1دورية أكاديمية
المؤلفون: Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi
المصدر: Diagnostic Pathology, Vol 17, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Ocular cystinosis, Cornea crystal, Mutations, CTNS, Tunisian families, Pathology, RB1-214
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1746-1596Test
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2دورية أكاديمية
المؤلفون: Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, I. Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Néji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi
مصطلحات موضوعية: Nephropathic Cystinosis Research, Pathology and Forensic Medicine, Medicine, Health Sciences, Management of Hyperbilirubinemia in Newborn Infants, Pediatrics, Perinatology and Child Health, Amino Acid Transport and Metabolism in Health and Disease, Biochemistry, Biochemistry, Genetics and Molecular Biology, Life Sciences, CTNS Gene Mutations, Cysteamine Therapy, Cystinosis, Ocular Manifestations, Pathology, Mutation, Biology, Genetics, FOS Biological sciences, Gene, Cystine, Cysteine, Enzyme
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المؤلفون: Latifa Chkioua, Hadhami Ben Turkia, Chayma Saheli, Hela Boudabous, Imen Chabchoub, Sameh Mabrouk, Taieb Massoud, Mohamed Ghorbel, Wissem Ben Azzouz, Sandrine Laradi, Neji Tebib, Wassila Mili, Salima Ferchichi, Yessine Amri
مصطلحات موضوعية: Pathology, medicine.medical_specialty, genetic structures, business.industry, Cystinosis, medicine, sense organs, medicine.disease, business, eye diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0152e7ff4c46bee6e0d47d342ec6076aTest
https://doi.org/10.21203/rs.3.rs-1027134/v1Test -
4دورية أكاديمية
المؤلفون: Ilhem Barboura, S. Hadded, S. Chebel, Rachida Ben Mansour, H. Chahed, Mohamed-Néji Gueddiche, Mahbouba Frih-Ayed, Salima Ferchichi, A. Miled
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Epidemiology and Treatment of Chagas Disease, Epidemiology, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, FOS Chemical sciences, Chemistry, Physical Sciences, Lysosomal Storage Disorders, Metachromatic leukodystrophy, Arylsulfatase A, Magnetic resonance imaging, Pathology, Leukodystrophy, Internal medicine, Gastroenterology, Radiology, Disease
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5دورية أكاديمية
المؤلفون: Latifa Chkioua, Souhir Khedhiri, Asma Kassab, Amina Bibi, Salima Ferchichi, Roseline Froissart, Christine Vianey‐Saban, Sandrine Laradi, Abdelhédi Miled
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, FOS Chemical sciences, Chemistry, Physical Sciences, Epidemiology and Treatment of Chagas Disease, Epidemiology, Mucopolysaccharidoses, Mucopolysaccharidosis type I, Exon, Phenotype, Mutation, Genetics, Biology, Mucopolysaccharidosis, Mutation testing, Intron, Molecular biology, Lysosomal storage disease, Gene, Mucopolysaccharidosis I, Pathology, Disease, Biochemistry, Enzyme replacement therapy
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المؤلفون: Saber Chebel, Souhaira Ben Khelifa, Irène Maire, Zaineb Jaidane, Rachida Ben Mansour, H. Chahed, Ilhem Barboura, Abdelhedi Miled, A. Dandana, Salima Ferchichi
المصدر: Annales de biologie clinique. 68:385-391
مصطلحات موضوعية: Nervous system, Arylsulfatase A, Pathology, medicine.medical_specialty, business.industry, Cerebroside-sulfatase, General Medicine, Neuropathology, medicine.disease, Central nervous system disease, Metachromatic leukodystrophy, Myelin, medicine.anatomical_structure, Lysosomal storage disease, medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::967e7f51f12780dc3d1350ae73cde1bcTest
https://doi.org/10.1684/abc.2010.0448Test -
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المؤلفون: Manel Ammar, Salima Ferchichi, Abdelhedi Miled, A. Boughammoura-Bouatay, Mahbouba Frih-Ayed, Ilhem Barboura, Saber Chebel
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 36:521-523
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Multiple Sclerosis, business.industry, Multiple sclerosis, Diagnostico diferencial, Leukodystrophy, Leukodystrophy, Metachromatic, General Medicine, medicine.disease, Magnetic Resonance Imaging, Central nervous system disease, Metachromatic leukodystrophy, Degenerative disease, Neurology, medicine, Humans, Female, Sphingolipidosis, Neurology (clinical), Adult type, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28abee038c2d17eada47332b828e3ef0Test
https://doi.org/10.1017/s0317167100007940Test -
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المؤلفون: Bruno Baudin, Yosri Noichri, Samia Ernez, Latifa Chkioua, Salima Ferchichi, Abdelkader Chalghoum, Abdelhedi Miled
المصدر: Diagnostic Pathology
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Erythrocytes, Tunisia, Histology, Antioxidant, Homocysteine, medicine.medical_treatment, Lipid peroxidation, Myocardial Infarction, Acute myocardial infarction, Thiobarbituric Acid Reactive Substances, Antioxidants, Pathology and Forensic Medicine, chemistry.chemical_compound, Internal medicine, Humans, Medicine, cardiovascular diseases, Myocardial infarction, Aged, Aged, 80 and over, chemistry.chemical_classification, Reactive oxygen species, biology, business.industry, Research, General Medicine, Middle Aged, Catalase, medicine.disease, Hyperhomocysteinaemia, Pathophysiology, Enzyme assay, Endocrinology, chemistry, Biochemistry, biology.protein, Female, Reactive Oxygen Species, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fd828a47572787b3b28718207781c4Test
https://doi.org/10.1186/1746-1596-8-68Test -
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المؤلفون: Rachida Ben Mansour, Ilhem Barboura, Samir Hadded, Mahbouba Frih-Ayed, Abdelhedi Miled, H. Chahed, Mohamed-Néji Gueddiche, Saber Chebel, Salima Ferchichi
المصدر: Diagnostic Pathology
Diagnostic Pathology, Vol 7, Iss 1, p 11 (2012)مصطلحات موضوعية: Adult, Male, Arylsulfatase A, Pathology, medicine.medical_specialty, Histology, Tunisia, sulfatide, Catechols, Urinalysis, complex mixtures, metachromatic leukodystrophy, Pathology and Forensic Medicine, Predictive Value of Tests, lcsh:Pathology, Brain mri, Medicine, Humans, Cerebroside-Sulfatase, Sulfoglycosphingolipids, medicine.diagnostic_test, business.industry, Cerebroside-sulfatase, Mental Disorders, Research, urinary sulfatide, Low activity, Brain, Magnetic resonance imaging, General Medicine, Leukodystrophy, Metachromatic, medicine.disease, Prognosis, Magnetic Resonance Imaging, arylsulfatase A, Metachromatic leukodystrophy, medicine.anatomical_structure, Phenotype, Peripheral nervous system, Child, Preschool, Female, demylinisation, Chromatography, Thin Layer, business, Biomarkers, lcsh:RB1-214, Adult form
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bc7b746957b444cc0bef03fde2a5903Test
https://pubmed.ncbi.nlm.nih.gov/22284439Test -
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المؤلفون: Henda Chahed, Salima Ferchichi, Latifa Chkioua, Sandrine Laradi, Hadhami Ben Turkia, Abdelhedi Miled, Marie Françoise Ben Dridi, S. Khedhiri
المصدر: Diagnostic Pathology
Diagnostic Pathology, Vol 6, Iss 1, p 113 (2011)مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Pathology, Heterozygote, Histology, Tunisia, Tunisian population, Genetic counseling, Mucopolysaccharidosis I, Mutation, Missense, Disease, Consanguinity, Pathology and Forensic Medicine, chemistry.chemical_compound, Mucopolysaccharidosis type I, Iduronidase, Fatal Outcome, Gene Frequency, lcsh:Pathology, medicine, Humans, Child, business.industry, Research, mucopolysaccharidosis type I, Homozygote, Infant, Heterozygote advantage, General Medicine, Heparan sulfate, mutations, Pedigree, Phenotype, chemistry, Child, Preschool, Immunology, Female, business, lcsh:RB1-214, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a8cff578d3ff3ba6052adeeab9bb44Test
http://europepmc.org/articles/PMC3261812Test