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1دورية 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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2
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. 17
مصطلحات موضوعية: Amino Acid Transport Systems, Neutral, Tunisia, Histology, Cystinosis, Lipid Bilayers, Mutation, Cystine, Humans, General Medicine, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d814f179adcc77a57e80e741f6bd3e7Test
https://doi.org/10.1186/s13000-022-01221-8Test -
3دورية أكاديمية
المؤلفون: Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, Rémy Tcheng, Roseline Froissart, H. Chahed, Salima Ferchichi, M. F. Ben Dridi, 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, Nephropathic Cystinosis Research, Pathology and Forensic Medicine, Mucopolysaccharidoses, Mucopolysaccharidosis type I, Mucopolysaccharidosis I, Missense mutation, Exon, Hurler syndrome, Lysosomal storage disease, Mucopolysaccharidosis, Dermatan sulfate, Mutation, Exon skipping, Phenotype, Nonsense mutation, Molecular biology, Heparan sulfate, Genetics, Biology, Enzyme replacement therapy
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4
المؤلفون: Mohsen Kerkeni, Halima Ben Limam, Abdelhedi Miled, Salima Ferchichi, Henda Chahed, Mohamed Yahia Hrira, Faouzi Addad, Ben Khaldoun Hamda
المصدر: Cardiovascular Pathology. 21:455-460
مصطلحات موضوعية: Male, medicine.medical_specialty, Tunisia, Apolipoprotein B, Tunisian population, Inflammation, Coronary Artery Disease, Severity of Illness Index, Gastroenterology, Pathology and Forensic Medicine, Coronary artery disease, chemistry.chemical_compound, Internal medicine, medicine, Humans, Apolipoproteins B, Apolipoprotein A-I, biology, Triglyceride, medicine.diagnostic_test, business.industry, C-reactive protein, Angiography, Coronary Stenosis, nutritional and metabolic diseases, General Medicine, Middle Aged, Prognosis, medicine.disease, Lipids, C-Reactive Protein, chemistry, biology.protein, Cardiology, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Cardiology and Cardiovascular Medicine, business, Dyslipidemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdf22bd85e12545d8ef263d6f92592bTest
https://doi.org/10.1016/j.carpath.2012.02.009Test -
5
المؤلفون: Souhaira Ben Khelifa, A. Dandana, Abdelhedi Miled, Salima Ferchichi, H. Chahed
المصدر: Pathobiology : journal of immunopathology, molecular and cellular biology. 83(1)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Anemia, Hepatosplenomegaly, Disease, Glucocerebroside, Neutropenia, Gastroenterology, Hypersplenism, Pathology and Forensic Medicine, 03 medical and health sciences, Internal medicine, Lysosomal storage disease, medicine, Humans, Enzyme Replacement Therapy, Molecular Biology, Gaucher Disease, business.industry, Cell Biology, General Medicine, Enzyme replacement therapy, Genetic Therapy, medicine.disease, Glucosylceramidase, 030104 developmental biology, Splenomegaly, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de447ee15c2e4c6f05d988e11fe725f2Test
https://pubmed.ncbi.nlm.nih.gov/26588331Test -
6
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 -
7
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 -
8
المؤلفون: Hadhami Ben Turkia, Salima Ferchichi, Latifa Chkioua, Sandrine Laradi, Henda Chahed, Rémy Tcheng, Christine Vianey-Saban, Abdelhedi Miled, Marie Françoise Ben Dridi, Roseline Froissart, S. Khedhiri
المصدر: Diagnostic Pathology
Diagnostic Pathology, Vol 6, Iss 1, p 47 (2011)مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, Histology, Genotype, Mucopolysaccharidosis I, DNA Mutational Analysis, Mutation, Missense, Biology, Dermatan sulfate, Pathology and Forensic Medicine, Iduronidase, Mucopolysaccharidosis type I, Exon, chemistry.chemical_compound, lcsh:Pathology, Humans, Child, skin and connective tissue diseases, Gene, Family Health, Genetics, Research, nutritional and metabolic diseases, General Medicine, Heparan sulfate, Molecular biology, chemistry, Child, Preschool, Female, lcsh:RB1-214
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e548a7171a6c9d212fa49c53eb92df1bTest
https://doi.org/10.1186/1746-1596-6-47Test -
9
المؤلفون: Christine Vianey-Saban, Roseline Froissart, Abdelhedi Miled, Henda Chahed, Salima Ferchichi, Rémy Tcheng, Sandrine Laradi, S. Khedhiri, Latifa Chkioua
المصدر: Diagnostic Pathology, Vol 6, Iss 1, p 42 (2011)
Diagnostic Pathologyمصطلحات موضوعية: Male, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Histology, Genotype, Case Report, Iduronate Sulfatase, Consanguinity, Biology, Pathology and Forensic Medicine, Exon, medicine, lcsh:Pathology, Humans, Genetic Predisposition to Disease, Mucopolysaccharidosis type II, Child, Mucopolysaccharidosis II, Genetics, Polymorphism, Genetic, Infant, Iduronate-2-sulfatase, Hunter syndrome, General Medicine, medicine.disease, Child, Preschool, Mutation, Mutation (genetic algorithm), Female, lcsh:RB1-214
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a191b68d62382c5b3b4712a93704caa3Test
http://www.diagnosticpathology.org/content/6/1/42Test -
10
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