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1رسالة جامعية
المؤلفون: Humble, Stewart Wynn
المساهمون: Wade-Martins, Richard, Ryan, Brent, Ward, Michael E.
مصطلحات موضوعية: Neurobiology, Genetics, CRISPR (Genetics), Lysosomes, Molecular neurobiology, Lysosomal storage diseases, Genetic engineering
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2رسالة جامعية
المؤلفون: Bogucka, Agnieszka
المساهمون: Gloster, Tracey
مصطلحات موضوعية: Sulfatases, Heparan sulfate, Lysosomal storage, Fragment based screening, Heparin, Lysosomal storage diseases, Drugs--Design
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3رسالة جامعية
المؤلفون: Gray, James Andrew Russell
المساهمون: Platt, Frances
مصطلحات موضوعية: 616.3, Heat shock proteins, Lysosomal storage diseases, Central nervous system--Abnormalities
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4رسالة جامعية
المؤلفون: Chen, Chun-Wu
المساهمون: Platt, Fran
مصطلحات موضوعية: 616.7, Pharmacology, Lysosomal storage diseases, metal, biomarker, glycosphingolipids
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5
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6رسالة جامعية
المؤلفون: Da Silva, Afitz
مرشدي الرسالة: Montpellier, Garcia, Marcel, Cerutti, Martine
مصطلحات موضوعية: Maladies lysosomales, Maladie de Pompe, Enzymothérapie, Récepteur du mannose 6-Phosphate, Lysosomal storage diseases, Pompe disease, Enzyme replacement therapy, Mannose 6-Phosphate receptor
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7مورد إلكتروني
المؤلفون: Kishnani, Priya S
المصدر: Molecular genetics and metabolism; vol 117, iss 2, 66-83; 1096-7192
مصطلحات الفهرس: Animals, Humans, Lysosomal Storage Diseases, Hydrolases, Recombinant Proteins, Immune Tolerance, Enzyme Replacement Therapy, Enzyme replacement therapy, Immune tolerance, Inborn errors of metabolism, Lysosomal storage diseases, Neutralizing antibodies, Orphan drugs, Rare diseases, Orphan Drug, Rare Diseases, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Inflammatory and immune system, Clinical Sciences, Genetics & Heredity, article
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8مورد إلكتروني
المؤلفون: Schwab, Marisa E
المصدر: Orphanet journal of rare diseases; vol 17, iss 1, 25; 1750-1172
مصطلحات الفهرس: Humans, Glycogen Storage Disease Type II, Lysosomal Storage Diseases, Fetal Therapies, Attitude, Parents, Pregnancy, Female, Clinical Trials, Phase I as Topic, Enzyme Replacement Therapy, Surveys and Questionnaires, Clinical trial, ELSI, Enzyme replacement therapy, Fetal therapy, Gene therapy, Lysosomal storage disease, Mucopolysaccharidosis, Patient attitudes, ELSI (ethical, legal and social implications), Clinical Trials and Supportive Activities, Genetics, Rare Diseases, Clinical Research, Orphan Drug, Pediatric, Digestive Diseases, Good Health and Well Being, Other Medical and Health Sciences, Genetics & Heredity, article
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9مورد إلكترونيLysosphingolipid urine screening test using tandem mass spectrometry for lysosomal storage disorders
عناروين إضافية: Dépistage de lysosphingolipides urinaires par spectrométrie de masse en tandem pour les maladies lysosomales
مصطلحات الفهرس: Sphingolipidosis, Lysosomal storage diseases, Screening, Urine, Tandem mass spectrometry, Ultra-high-performance liquid chromatography, Biomarker, Lysosphingolipides, Sphingolipidoses, Lysosphingolipid, Maladies lysosomales, Dépistage, Spectrométrie de masse en tandem, Chromatographie liquide en ultra-haute performance, Biomarqueur, Mémoire
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10مورد إلكتروني
المؤلفون: Logan, Todd
المصدر: Cell; vol 184, iss 18, 4651-4668.e25; 0092-8674
مصطلحات الفهرس: Brain, Microglia, Endosomes, Lysosomes, Macrophages, Animals, Mice, Inbred C57BL, Transgenic, Humans, Lysosomal Storage Diseases, Gliosis, Inflammation, Nerve Degeneration, Lipofuscin, Receptors, Transferrin, Membrane Glycoproteins, Bone Morphogenetic Proteins, Immunologic, Biological Products, Tissue Distribution, Phenotype, Female, Male, Lipid Metabolism, Induced Pluripotent Stem Cells, Frontotemporal Dementia, Progranulins, GBA, LBPA, galectin-3, lipidomics, lipids, lipofuscin, lysobisphosphatidic acid, lysosome, metabolomics, neurodegenerative disease, Brain Disorders, Alzheimer's Disease Related Dementias (ADRD), Dementia, Acquired Cognitive Impairment, Neurodegenerative, Rare Diseases, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, Frontotemporal Dementia (FTD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Developmental Biology, article