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1دورية أكاديمية
المؤلفون: Latifa Chkioua, Souhir Khedhiri, Salima Ferchichi, Rémy Tcheng, H. Chahed, 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, Epidemiology and Treatment of Chagas Disease, Epidemiology, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, FOS Chemical sciences, Chemistry, Physical Sciences, Lysosomal Storage Disorders, Mucopolysaccharidosis type II, Hunter syndrome, Proband, Genotype, Exon, Genetics, Compound heterozygosity, Mutation, Biology, Consanguinity, Molecular biology, Internal medicine, Gene, Enzyme replacement therapy, Disease
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2دورية أكاديمية
المؤلفون: Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, H. Chahed, Salima Ferchichi, M. F. Ben Dridi, Sandrine Laradi, Abdelhédi 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, Glycogen Metabolism and Myoclonic Disorders, Rheumatology, Mucopolysaccharidoses, Consanguinity, Hurler syndrome, Mucopolysaccharidosis type I, Mucopolysaccharidosis I, Population, Mucopolysaccharidosis type II, Mutation, Mucopolysaccharidosis, Transplantation, Heterozygote advantage, Internal medicine, Compound heterozygosity, Pediatrics, Gastroenterology, Disease, Enzyme replacement therapy, Genetics, Genotype, Biology, Gene
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3
المؤلفون: Latifa Chkioua, Abdelhedi Miled, Sandrine Laradi, S. Khedhiri, Salima Ferchichi
المصدر: Annales de biologie clinique. 69:425-429
مصطلحات موضوعية: Male, medicine.medical_specialty, Tunisia, Adolescent, Genetic counseling, Mucopolysaccharidosis, Genetic Counseling, Prenatal diagnosis, Disease, Consanguinity, Young Adult, Prenatal Diagnosis, Internal medicine, Lysosomal storage disease, medicine, Humans, Child, Polymorphism, Genetic, business.industry, Incidence (epidemiology), Mucopolysaccharidosis IV, Exons, General Medicine, medicine.disease, Phenotype, Chondroitinsulfatases, Dysplasia, Mutation, Female, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edba5be99ed7cd8651c1e15c94446229Test
https://doi.org/10.1684/abc.2011.0593Test -
4
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 -
5دورية أكاديمية
المؤلفون: Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, Henda Chahed, Salima Ferchichi, Marie Françoise, Ben Dridi, Rine Laradi, Abdelhedi Miled
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: mucopolysaccharidosis type I, Tunisian population, consanguinity, mutations Background Mucopolysaccharidoses (MPS) are a group of
وصف الملف: application/pdf
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6دورية أكاديمية
المؤلفون: Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, Henda Chahed, Salima Ferchichi, Marie Françoise, Ben Dridi, Rine Laradi, Abdelhedi Miled
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/9a/f2/Diagn_Pathol_2011_Nov_10_6_113.tar.gz
مصطلحات موضوعية: mucopolysaccharidosis type I, Tunisian population, consanguinity, mutations Background Mucopolysaccharidoses (MPS) are a group of lysosomal
وصف الملف: application/zip
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7
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