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1دورية أكاديمية
المؤلفون: Byrne, Barry, Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Clemens, Paula, Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans, Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida, Johnson, Franklin, Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen
المصدر: Journal of Neurology. 271(4)
مصطلحات موضوعية: n-Butyldeoxynojirimycin, Alpha glucosidases, Glycogen storage disease type II, Lysosomal storage diseases, Myozyme, Pharmacokinetics, Adult, Humans, Glycogen Storage Disease Type II, Treatment Outcome, alpha-Glucosidases, Indoles, Enzyme Replacement Therapy, Propionates, 1-Deoxynojirimycin
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4639m33cTest
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2دورية أكاديمية
المؤلفون: Schwab, Marisa E, Brown, Julia EH, Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C, Gallagher, Renata C, Harmatz, Paul, MacKenzie, Tippi C
المصدر: Orphanet Journal of Rare Diseases. 17(1)
مصطلحات موضوعية: Genetics, Orphan Drug, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, Pediatric, Good Health and Well Being, Attitude, Clinical Trials, Phase I as Topic, Enzyme Replacement Therapy, Female, Fetal Therapies, Glycogen Storage Disease Type II, Humans, Lysosomal Storage Diseases, Parents, Pregnancy, Surveys and Questionnaires, Lysosomal storage disease, Mucopolysaccharidosis, Fetal therapy, Enzyme replacement therapy, Gene therapy, Patient attitudes, Clinical trial, ELSI (ethical, legal and social implications), ELSI, Other Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/79c7w0mvTest
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3دورية أكاديمية
المؤلفون: Logan, Todd, Simon, Matthew J, Rana, Anil, Cherf, Gerald M, Srivastava, Ankita, Davis, Sonnet S, Low, Ray Lieh Yoon, Chiu, Chi-Lu, Fang, Meng, Huang, Fen, Bhalla, Akhil, Llapashtica, Ceyda, Prorok, Rachel, Pizzo, Michelle E, Calvert, Meredith EK, Sun, Elizabeth W, Hsiao-Nakamoto, Jennifer, Rajendra, Yashas, Lexa, Katrina W, Srivastava, Devendra B, van Lengerich, Bettina, Wang, Junhua, Robles-Colmenares, Yaneth, Kim, Do Jin, Duque, Joseph, Lenser, Melina, Earr, Timothy K, Nguyen, Hoang, Chau, Roni, Tsogtbaatar, Buyankhishig, Ravi, Ritesh, Skuja, Lukas L, Solanoy, Hilda, Rosen, Howard J, Boeve, Bradley F, Boxer, Adam L, Heuer, Hilary W, Dennis, Mark S, Kariolis, Mihalis S, Monroe, Kathryn M, Przybyla, Laralynne, Sanchez, Pascal E, Meisner, Rene, Diaz, Dolores, Henne, Kirk R, Watts, Ryan J, Henry, Anastasia G, Gunasekaran, Kannan, Astarita, Giuseppe, Suh, Jung H, Lewcock, Joseph W, DeVos, Sarah L, Di Paolo, Gilbert
المصدر: Cell. 184(18)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Rare Diseases, Alzheimer's Disease Related Dementias (ADRD), Frontotemporal Dementia (FTD), Neurodegenerative, Dementia, Acquired Cognitive Impairment, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Biological Products, Bone Morphogenetic Proteins, Brain, Endosomes, Female, Frontotemporal Dementia, Gliosis, Humans, Induced Pluripotent Stem Cells, Inflammation, Lipid Metabolism, Lipofuscin, Lysosomal Storage Diseases, Lysosomes, Macrophages, Male, Membrane Glycoproteins, Mice, Mice, Inbred C57BL, Mice, Transgenic, Microglia, Nerve Degeneration, Phenotype, Progranulins, Receptors, Immunologic, Receptors, Transferrin, Tissue Distribution, GBA, LBPA, galectin-3, lipidomics, lipids, lipofuscin, lysobisphosphatidic acid, lysosome, metabolomics, neurodegenerative disease, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5d1190fpTest
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4دورية أكاديمية
المؤلفون: Showalter, Megan R, Berg, Anastasia L, Nagourney, Alexander, Heil, Hailey, Carraway, Kermit L, Fiehn, Oliver
المصدر: International Journal of Molecular Sciences. 21(21)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Brain Disorders, Aetiology, Underpinning research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Humans, Lysophospholipids, Lysosomal Storage Diseases, Lysosomes, Monoglycerides, bis(monoacylglycero)phosphate, lysobisphophatidic acid, lysosome, lipidomics, Other Chemical Sciences, Genetics, Other Biological Sciences, Chemical Physics, Biochemistry and cell biology, Microbiology, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7j45s3hnTest
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5دورية أكاديمية
المؤلفون: Olson, Linda J, Misra, Sandeep K, Ishihara, Mayumi, Battaile, Kevin P, Grant, Oliver C, Sood, Amika, Woods, Robert J, Kim, Jung-Ja P, Tiemeyer, Michael, Ren, Gang, Sharp, Joshua S, Dahms, Nancy M
المصدر: Communications Biology. 3(1)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, Neurosciences, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Allosteric Regulation, Binding Sites, Cations, Crystallography, X-Ray, Humans, Hydroxyl Radical, Ligands, Lysosomal Storage Diseases, Lysosomes, Mannose, Microscopy, Electron, Protein Conformation, Protein Footprinting, Receptor, IGF Type 2, Surface Plasmon Resonance, Biological sciences, Biomedical and clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5qn103h7Test
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6دورية أكاديميةLysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
المؤلفون: Nicoli, Elena-Raluca, Weston, Mary, Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih, Baker, Peter, Burke, John, Dorward, Heidi, Davids, Mariska, Huang, Yan, Adams, David, Zerfas, Patricia, Chen, Dong, Markello, Thomas, Toro, Camilo, Wood, Tim, Elliott, Gene, Vu, Mylinh, Zheng, Wei, Garrett, Lisa, Tifft, Cynthia, Gahl, William, Day-Salvatore, Debra, Mindell, Joseph, Malicdan, May
المصدر: American Journal of Human Genetics. 104(6)
مصطلحات موضوعية: ClC-7 antiporter, chloroquine, cutaneous albinism, lysosomal hyperacidity, lysosomal membrane counterion, lysosomal pH, lysosomal storage disease, oculocutaneous albinism, Acids, Albinism, Animals, Chloride Channels, Female, Fibroblasts, Genetic Variation, Humans, Hydrogen-Ion Concentration, Infant, Lysosomal Storage Diseases, Lysosomes, Male, Mice, Oocytes, Xenopus laevis
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0xp9k0xsTest
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7دورية أكاديمية
المؤلفون: Do, Mai Anh, Levy, Daniel, Brown, Annie, Marriott, Gerard, Lu, Biao
المصدر: Scientific Reports. 9(1)
مصطلحات موضوعية: Medical Biotechnology, Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Neurosciences, Neurodegenerative, Genetics, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Biological Transport, Cell Line, Drug Delivery Systems, Endocytosis, Exosomes, Extracellular Vesicles, Gaucher Disease, Glucosylceramidase, HEK293 Cells, Hep G2 Cells, Humans, Lysosomal Storage Diseases, Lysosomes, Nanoparticles, Particle Size
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3m30g32rTest
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8دورية أكاديمية
المؤلفون: Kishnani, Priya S, Dickson, Patricia I, Muldowney, Laurie, Lee, Jessica J, Rosenberg, Amy, Abichandani, Rekha, Bluestone, Jeffrey A, Burton, Barbara K, Dewey, Maureen, Freitas, Alexandra, Gavin, Derek, Griebel, Donna, Hogan, Melissa, Holland, Stephen, Tanpaiboon, Pranoot, Turka, Laurence A, Utz, Jeanine J, Wang, Yow-Ming, Whitley, Chester B, Kazi, Zoheb B, Pariser, Anne R
المصدر: Molecular Genetics and Metabolism. 117(2)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Orphan Drug, Rare Diseases, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Inflammatory and immune system, Animals, Enzyme Replacement Therapy, Humans, Hydrolases, Immune Tolerance, Lysosomal Storage Diseases, Recombinant Proteins, Immune tolerance, Lysosomal storage diseases, Enzyme replacement therapy, Inborn errors of metabolism, Neutralizing antibodies, Orphan drugs, Rare diseases, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/59n944htTest
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9دورية أكاديمية
المؤلفون: Kishnani, Priya S, Dickson, Patricia I, Muldowney, Laurie, Lee, Jessica J, Rosenberg, Amy, Abichandani, Rekha, Bluestone, Jeffrey A, Burton, Barbara K, Dewey, Maureen, Freitas, Alexandra, Gavin, Derek, Griebel, Donna, Hogan, Melissa, Holland, Stephen, Tanpaiboon, Pranoot, Turka, Laurence A, Utz, Jeanine J, Wang, Yow-Ming, Whitley, Chester B, Kazi, Zoheb B, Pariser, Anne R
المصدر: Molecular genetics and metabolism. 117(2)
مصطلحات موضوعية: 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, 5.1 Pharmaceuticals, Inflammatory and Immune System, Genetics & Heredity, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/59n944htTest
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10دورية أكاديمية
المؤلفون: Duleh, Steve, Wang, Xianhong, Komirenko, Allison, Margeta, Marta
المصدر: Acta Neuropathologica Communications. 4(1)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Genetics, Clinical Research, Adult, Aged, Aged, 80 and over, Animals, Autophagy, Cell Line, Cohort Studies, Female, Humans, Kelch-Like ECH-Associated Protein 1, Lysosomal Storage Diseases, Male, Mice, Middle Aged, Muscle, Skeletal, Muscular Diseases, Myositis, Inclusion Body, NF-E2-Related Factor 2, Protein Aggregation, Pathological, Sequestosome-1 Protein, Signal Transduction, Young Adult, Stress response signaling, Keap1, Nrf2, Hydroxychloroquine, Colchicine, Toxic myopathy, Vacuolar myopathy, Inclusion body myositis, Clinical Sciences, Neurosciences, Biochemistry and cell biology
الوصول الحر: https://escholarship.org/uc/item/69f0n56qTest