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1دورية 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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2دورية 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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3دورية 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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4دورية أكاديمية
المؤلفون: Yoldaş, Çelik, M., Canda, E., Yazıcı, H., Erdem, F., Özkaya, P.Y., Sahbudak, Z.B., Uçar, S.K.
مصطلحات موضوعية: COVID-19, fabry, Gaucher, inherited metabolic diseases, lysosomal storage diseases, SARS-CoV-2, coronavac, favipiravir, immunoglobulin, steroid, tenofovir, adolescent, adult, anosmia, Article, child, clinical article, coronavirus disease 2019, diabetes mellitus, Fabry disease, female, Gaucher disease, headache, hospitalization, human, hypertension, inflammatory disease, intensive care unit, leukopenia, liver disease
العلاقة: Turkish Archives of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.5152/TurkArchPediatr.2023.22233Test; https://search.trdizin.gov.tr/yayin/detay/1179221Test; https://hdl.handle.net/11454/87415Test; 58; 262; 267; 1179221; 2-s2.0-85160523823
الإتاحة: https://doi.org/10.5152/TurkArchPediatr.2023.22233Test
https://hdl.handle.net/11454/87415Test
https://search.trdizin.gov.tr/yayin/detay/1179221Test -
5دورية أكاديمية
المؤلفون: Canda, E., Yoldaş, Çelik, M., Yazıcı, H., Erdem, F., Özkaya, P.Y., Sahbudak, Z.B., Uçar, S.K.
مصطلحات موضوعية: fabry, COVID-19, Gaucher, inherited metabolic diseases, lysosomal storage diseases, SARS-CoV-2, coronavac, favipiravir, immunoglobulin, steroid, tenofovir, adolescent, adult, anosmia, Article, child, clinical article, coronavirus disease 2019, diabetes mellitus, Fabry disease, female, Gaucher disease, headache, hospitalization, human, hypertension, inflammatory disease, intensive care unit, leukopenia, liver disease
العلاقة: Turkish Archives of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://search.trdizin.gov.tr/yayin/detay/1179221Test; https://doi.org/10.5152/TurkArchPediatr.2023.22233Test; https://hdl.handle.net/11454/91166Test; 58; 262; 267
الإتاحة: https://doi.org/10.5152/TurkArchPediatr.2023.22233Test
https://hdl.handle.net/11454/91166Test
https://search.trdizin.gov.tr/yayin/detay/1179221Test -
6دورية 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
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7دورية أكاديمية
المؤلفون: Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
المصدر: Journal of Medical Genetics. 53(6)
مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Clinical Research, Mucopolysaccharidoses (MPS), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Adult, Child, Child, Preschool, Female, Glucuronidase, Humans, Infant, Lysosomal Storage Diseases, Male, Mucopolysaccharidosis VII, Phenotype, Surveys and Questionnaires, Young Adult, Clinical genetics, Genetics, Metabolic disorders, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2g54h4x6Test
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8دورية أكاديمية
المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G
المصدر: Nature Genetics. 47(5)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/57n4q5z6Test
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9دورية أكاديمية
المؤلفون: Greillier, Sophie, Daniel, Laurent, Caillaud, Catherine, Dussol, Bertrand, Touchard, Guy, Goujon, Jean-Michel, Jourde-Chiche, Noémie, Bobot, Mickaël
المصدر: BMC Medical Genetics; 6/26/2020, Vol. 21 Issue 1, p1-5, 5p
مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, LYSOSOMES, WOMEN patients, LYSOSOMAL storage diseases, MAGNETIC resonance imaging, RENAL biopsy
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10
المؤلفون: Melike Ersoy, Hamide Pişkinpaşa
المصدر: Journal of Pediatric Endocrinology and Metabolism. 35:519-527
مصطلحات موضوعية: Lysosomal Storage Diseases, Gaucher Disease, Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Quality of Life, Fabry Disease, Humans, Enzyme Replacement Therapy, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf60621a6b200eb9a146c79500e9f0fTest
https://doi.org/10.1515/jpem-2021-0664Test