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1دورية أكاديمية
المؤلفون: Mashima, Ryuichi, Takada, Shuji
المصدر: International Journal of Molecular Sciences; Dec2022, Vol. 23 Issue 24, p15549, 15p
مصطلحات موضوعية: GENETICS, LIPASES, ENZYME replacement therapy, CHOLESTERYL ester transfer protein, LYSOSOMAL storage diseases, ENZYME deficiency
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2دورية أكاديمية
المؤلفون: Merav Antman-Passig, Zvi Yaari, Dana Goerzen, Rooshi Parikh, Savannah Chatman, Lauren E. Komer, Chen Chen, Emma Grabarnik, Mickael Mathieu, Adriana Haimovitz-Friedman, Daniel A. Heller
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Neuroscience, Pharmacology, Sociology, Marine Biology, Cancer, Science Policy, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, lysosomal storage disorders, effective treatment strategies, lysosomal storage diseases, intracranial lipid content, abnormal sphingomyelin accumulation, common neurodegenerative diseases, neurodegenerative diseases, lipid accumulation, neurodegenerative pathologies, work indicates, vivo models, neurological decline, monitor abnormalities, infrared spectroscopy, infrared emission, endolysosomal lumen
الإتاحة: https://doi.org/10.1021/acs.nanolett.3c02502.s001Test
https://figshare.com/articles/journal_contribution/Nanoreporter_Identifies_Lysosomal_Storage_Disease_Lipid_Accumulation_Intracranially/24451443Test -
3دورية أكاديمية
المؤلفون: Murphy, John T.1, Liu, Haiyan1,2, Ma, Xiucui1,2, Shaver, Alex1, Egan, Brian M.1,3, Oh, Clara1, Boyko, Alexander1, Mazer, Travis1, Ang, Samuel1, Khopkar, Rohan1, Javaheri, Ali1, Kumar, Sandeep3, Jiang, Xuntian1, Ory, Daniel1, Mani, Kartik1,2, Matkovich, Scot J.1, Kornfeld, Kerry3, Diwan, Abhinav1,2,4 adiwan@wustl.edu
المصدر: PLoS Biology. 5/14/2019, Vol. 17 Issue 5, p1-42. 42p. 1 Color Photograph, 1 Diagram, 6 Graphs.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ORGANELLES, *ORIGIN of life, *LIPASES, *LIPID metabolism
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4دورية
المصدر: Genomics & Genetics Weekly; 5/31/2024, p313-313, 1p
مصطلحات موضوعية: NEWBORN screening, LYSOSOMAL storage diseases, RESEARCH personnel, GLYCOGEN storage disease type II
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5دورية
المصدر: Cardiovascular Week; 5/6/2024, p996-996, 1p
مصطلحات موضوعية: HYPERTROPHIC cardiomyopathy, LIPID metabolism disorders, X-linked genetic disorders, LYSOSOMAL storage diseases, HEART failure, ARRHYTHMIA, ANGIOKERATOMA corporis diffusum
مصطلحات جغرافية: TAIWAN
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6دورية أكاديمية
المؤلفون: Sánchez-Lanzas, Raúl1,2, Castaño, José G.1,2 joseg.castano@uam.es
المصدر: PLoS ONE. 7/26/2018, Vol. 13 Issue 7, p1-14. 14p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CELL physiology, *MEMBRANE proteins, *PROTEASOMES, *PARKINSON'S disease
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7دورية أكاديمية
المؤلفون: Causevic, Mirsada1, Dominko, Kristina1, Malnar, Martina1, Vidatic, Lea1, Cermak, Stjepko1, Pigoni, Martina2, Kuhn, Peer-Hendrik3, Colombo, Alessio2, Havas, Daniel4, Flunkert, Stefanie4, McDonald, Jessica5, Gunnersen, Jenny M.6,7, Hutter-Paier, Birgit4, Tahirovic, Sabina2, Windisch, Manfred4, Krainc, Dimitri5, Lichtenthaler, Stefan F.2,8,9, Hecimovic, Silva1 silva.hecimovic@irb.hr
المصدر: PLoS ONE. 7/6/2018, p1-22. 22p.
مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *AMYLOID beta-protein precursor, *RARE diseases, *BRAIN physiology, *LABORATORY mice
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8دورية أكاديمية
المؤلفون: Pan, Xuefang1, Wang, Yanting2, Lübke, Torben3, Hinek, Aleksander2, Pshezhetsky, Alexey V.1,4 alexei.pchejetski@umontreal.ca
المصدر: PLoS ONE. 2/24/2017, Vol. 12 Issue 2, p1-20. 20p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CARBOXYPEPTIDASES, *CATHEPSINS, *RETINAL degeneration, *SKIN diseases, *LABORATORY mice, *THERAPEUTICS
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9دورية أكاديمية
المؤلفون: Folts, Christopher J.1, Scott-Hewitt, Nicole1, Pröschel, Christoph1, Mayer-Pröschel, Margot1, Noble, Mark1
المصدر: PLoS Biology. 12/15/2016, Vol. 14 Issue 12, p1-39. 39p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *PHYSIOLOGICAL effects of lipids, *LYSOSOMES, *GENETIC toxicology, *OLIGODENDROGLIA, *CENTRAL nervous system diseases, *GENETICS
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10دورية أكاديمية
المؤلفون: Mona Essawi, Ekram Fateen, Hanan Abd Elmawgoud Atia, Noura R. Eissa, Eman H. Aboul-Ezz, Mona Ibrahim, Heba Hassan, Samia A. Temtamy
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Lysosomal Calcium Signaling in Physiology and Pathology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Lysosomal Storage Disorders, Lysosomal Storage Diseases, Mucolipidosis Type IV, Mucolipidosis, Exon, Mutation, Genetics, Compound heterozygosity, Lysosomal storage disease, Gene mutation, Frameshift mutation, Molecular biology, Biology, Gene, Point mutation, Enzyme, Biochemistry