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1دورية أكاديمية
المؤلفون: Lipiński, Patryk1 (AUTHOR) patryk.lipinski.92@gmail.com, Tylki-Szymańska, Anna2 (AUTHOR) a.tylki@ipczd.pl
المصدر: Diagnostics (2075-4418). Jun2024, Vol. 14 Issue 12, p1299. 11p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *SYMPTOMS, *GLYCOGEN storage disease type II, *NIEMANN-Pick diseases, *GAUCHER'S disease, *LIVER
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2دورية أكاديمية
المؤلفون: Xia, Jianhong1 (AUTHOR) jhxia2006@163.com, Wang, Haiyun1,2 (AUTHOR) sunny.haiyun@gmail.com, Zhong, Zhihang3,4 (AUTHOR) zhongzhihanggood@163.com, Jiang, Jun3,4 (AUTHOR) jiangjun@scau.edu.cn
المصدر: Cells (2073-4409). Jun2024, Vol. 13 Issue 11, p953. 18p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MTOR inhibitors, *CELL culture, *BRACHYDANIO, *HOMEOSTASIS
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3دورية أكاديمية
المؤلفون: Kuznetsov, Alexander1 (AUTHOR), Sheshil, Andrey1 (AUTHOR), Smolin, Eugene1 (AUTHOR), Grudtsov, Vitaliy1 (AUTHOR), Ryazantsev, Dmitriy1 (AUTHOR), Shustinskiy, Mark1 (AUTHOR), Tikhonova, Tatiana1 (AUTHOR), Kitiashvili, Irakli2 (AUTHOR), Vechorko, Valerii2 (AUTHOR), Komarova, Natalia1 (AUTHOR) nat.v.kom@gmail.com
المصدر: Sensors (14248220). Jun2024, Vol. 24 Issue 11, p3681. 12p.
مصطلحات موضوعية: *FIELD-effect transistors, *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ENZYME replacement therapy, *NEWBORN screening, *COMPLEMENTARY metal oxide semiconductors
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4دورية أكاديمية
المؤلفون: Tsap, Mariana I.1, Yatsenko, Andriy S.1, Hegermann, Jan2, Beckmann, Bibiana3, Tsikas, Dimitrios3, Shcherbata, Halyna R.1,4 Shcherbata.Halyna@mhhannover.de
المصدر: eLife. 5/13/2024, p1-34. 34p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *BLOOD-brain barrier, *FATTY acids, *INFLAMMATION, *METABOLISM, *ANTI-inflammatory agents
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5دورية أكاديمية
المؤلفون: Muñoz-Oreja, Mikel1,2,3 (AUTHOR), Sandoval, Abigail4 (AUTHOR), Bruland, Ove5 (AUTHOR), Perez-Rodriguez, Diego6 (AUTHOR), Fernandez-Pelayo, Uxoa1 (AUTHOR), Arbina, Amaia Lopez de1 (AUTHOR), Villar-Fernandez, Marina1 (AUTHOR), Hernández-Eguiazu, Haizea1 (AUTHOR), Hernández, Ixiar2 (AUTHOR), Park, Yohan4 (AUTHOR), Goicoechea, Leire7,8,9 (AUTHOR), Pascual-Frías, Nerea1,10 (AUTHOR), Garcia-Ruiz, Carmen7,8,9 (AUTHOR), Fernandez-Checa, Jose7,8,9,11 (AUTHOR), Martí-Carrera, Itxaso1,2,3,12 (AUTHOR), Gil-Bea, Francisco Javier1 (AUTHOR), Hasan, Mazahir T13,14 (AUTHOR), Gegg, Matthew E6 (AUTHOR), Bredrup, Cecilie15,16 (AUTHOR), Knappskog, Per-Morten17 (AUTHOR)
المصدر: Brain: A Journal of Neurology. May2024, Vol. 147 Issue 5, p1899-1913. 15p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CHOLESTEROL, *CHOLESTEROL metabolism, *CELL membranes, *GLYCOGEN storage disease type II
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6دورية أكاديمية
المؤلفون: Farhat, Nicole Y.1 (AUTHOR) nicole.farhat@nih.gov, Alexander, Derek1 (AUTHOR) derek.alexander@nih.gov, McKee, Kyli1 (AUTHOR) kyli.a.mckee@gmail.com, Iben, James2 (AUTHOR) james.iben@nih.gov, Rodriguez-Gil, Jorge L.3 (AUTHOR) jrgil@stanford.edu, Wassif, Christopher A.1 (AUTHOR) christopher.wassif@astrazeneca.com, Cawley, Niamh X.1 (AUTHOR) cawleyn@mail.nih.gov, Balch, William E.4 (AUTHOR) webalch@scripps.edu, Porter, Forbes D.1 (AUTHOR) fdporter@mail.nih.gov
المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4217. 14p.
مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *GENE expression, *NATURAL history, *AGE of onset
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7دورية أكاديمية
المؤلفون: Li, Joyce Wai-Yin1 (AUTHOR), Yan, Kevin1 (AUTHOR), Balijepalli, Chakrapani1 (AUTHOR), Druyts, Eric1 (AUTHOR) eric.druyts@pharmalyticsgroup.com
المصدر: Current Medical Research & Opinion. Apr2024, Vol. 40 Issue 4, p709-722. 14p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *SOCIAL skills, *GLYCOGEN storage disease type II
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8دورية أكاديمية
المؤلفون: Huang, Guiwu1,2,3 (AUTHOR), Jian, Jinlong1,2 (AUTHOR), Liu, Chuan-Ju1,2,4 (AUTHOR) chuan-ju.liu@yale.edu
المصدر: Cytokine & Growth Factor Reviews. Apr2024, Vol. 76, p142-159. 18p.
مصطلحات موضوعية: *PROGRANULIN, *LYSOSOMAL storage diseases, *PERIPHERAL nervous system, *PROTEIN microarrays, *MUSCULOSKELETAL system diseases, *DEGENERATION (Pathology)
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9دورية أكاديمية
المؤلفون: Servín Muñoz, Iris Valeria1 (AUTHOR) iris.servin@alumnos.udg.mx, Ortuño-Sahagún, Daniel1 (AUTHOR) daniel.ortuno@academicos.udg.mx, Griñán-Ferré, Christian2,3 (AUTHOR) christian.grinan@ub.edu, Pallàs, Mercè2,3 (AUTHOR) pallas@ub.edu, González-Castillo, Celia4 (AUTHOR) daniel.ortuno@academicos.udg.mx
المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3806. 17p.
مصطلحات موضوعية: *LYSOSOMAL storage diseases, *HISTONE deacetylase inhibitors, *MUTANT proteins, *PROTEIN folding, *ALZHEIMER'S disease
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10دورية أكاديمية
المؤلفون: Álvarez, J. Victor.1,2 (AUTHOR) jose.victor.alvarez.gonzalez@sergas.es, Bravo, Susana B.3 (AUTHOR) sbbravo@gmail.com, Chantada-Vázquez, María Pilar3 (AUTHOR) mariadelpilarchantadavazquez@gmail.com, Pena, Carmen3 (AUTHOR) carmen.pena.pena@sergas.es, Colón, Cristóbal1,2 (AUTHOR) cristobal.colon.mejeras@sergas.es, Tomatsu, Shunji4 (AUTHOR) stomatsu@nemours.org, Otero-Espinar, Francisco J.5,6 (AUTHOR) francisco.otero@usc.es, Couce, María L.1,2 (AUTHOR) maria.luz.couce.pico@sergas.es
المصدر: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 6, p3232. 28p.
مصطلحات موضوعية: *MOLECULAR interactions, *LYSOSOMAL storage diseases, *KNOCKOUT mice, *ENZYME deficiency, *REACTIVE oxygen species, *LACTATE dehydrogenase, *SULFATASES, *BLOOD coagulation factor XIII