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1دورية أكاديمية
المؤلفون: Tamer Mansour, Kevin Woolard, Karen L. Vernau, Devin Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore, Marguerite F. Knipe, Haitham A. Seada, Tina M. Cowan, Miriam Aguilar, C. Titus Brown, Danika L. Bannasch
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Neurodegeneration with Brain Iron Accumulation, Neurology, Neuroscience, Life Sciences, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, FOS Chemical sciences, Chemistry, Physical Sciences, Lysosomal Storage Disorders, Mucopolysaccharidoses, Lysosomal storage disease, Coat, Breed, Mucopolysaccharidosis type I, Mucopolysaccharidosis, Mutation, Biology, Disease, Allele, Pathology, Genetics, Enzyme replacement therapy, Gene, Paleontology
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2دورية أكاديمية
المؤلفون: Tamer Mansour, Kevin Woolard, Karen L. Vernau, Devin Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore, Marguerite F. Knipe, Haitham A. Seada, Tina M. Cowan, Miriam Aguilar, C. Titus Brown, Danika L. Bannasch
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Neurodegeneration with Brain Iron Accumulation, Neurology, Neuroscience, Life Sciences, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, FOS Chemical sciences, Chemistry, Physical Sciences, Lysosomal Storage Disorders, Mucopolysaccharidoses, Lysosomal storage disease, Coat, Breed, Mucopolysaccharidosis type I, Mucopolysaccharidosis, Mutation, Biology, Disease, Allele, Pathology, Genetics, Enzyme replacement therapy, Gene, Paleontology
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3دورية أكاديمية
المؤلفون: Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Néji Tebib, Sandrine Laradi
مصطلحات موضوعية: Ubiquitin-Proteasome Proteolytic Pathway, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Mucopolysaccharidoses, Hurler syndrome, Splice site mutation, Mutation, Pedigree chart, splice, Gene, Pathology, Mucopolysaccharidosis type I, Gene mutation, Mucopolysaccharidosis I, Genetics, Biology, RNA splicing, Disease, Enzyme replacement therapy, RNA
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4دورية أكاديمية
المؤلفون: Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Néji Tebib, Sandrine Laradi
مصطلحات موضوعية: Ubiquitin-Proteasome Proteolytic Pathway, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Mucopolysaccharidoses, Hurler syndrome, Splice site mutation, Mutation, Pedigree chart, splice, Gene, Pathology, Mucopolysaccharidosis type I, Gene mutation, Mucopolysaccharidosis I, Genetics, Biology, RNA splicing, Disease, Enzyme replacement therapy, RNA
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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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6دورية 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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7دورية 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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8دورية 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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9دورية 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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10دورية 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