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1دورية أكاديمية
المؤلفون: Nahya Awada, Martin Holcik
المصدر: JIMD Reports, Vol 65, Iss 2, Pp 63-84 (2024)
مصطلحات موضوعية: access, health care, lived experience, lysosomal storage diseases, orphan drugs, patient advocacy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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2دورية أكاديمية
المصدر: FEBS Open Bio, Vol 13, Iss 9, Pp 1587-1600 (2023)
مصطلحات موضوعية: endo‐lysosome, ER, glycosphingolipids, lysosomal storage diseases, membrane contact sites, mitochondria, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2211-5463Test
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3دورية أكاديمية
المؤلفون: Zahra Alsahlawi, Emtithal Aljishi, Ammar Kheyami, Ahmed Alekri, Sayed Mohammed Jawad Alwedaie
المصدر: JIMD Reports, Vol 63, Iss 6, Pp 614-620 (2022)
مصطلحات موضوعية: galactosialidosis, lysosomal storage diseases, pediatric metabolic diseases, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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4دورية أكاديمية
المؤلفون: Barral, Duarte C, Staiano, Leopoldo, Almeida, Cláudia Guimas, Cutler, Dan F, Eden, Emily R, Futter, Clare E, Galione, Antony, Marques, André RA, Medina, Diego Luis, Napolitano, Gennaro, Settembre, Carmine, Vieira, Otília V, Aerts, Johannes MFG, Atakpa-Adaji, Peace, Bruno, Gemma, Capuozzo, Antonella, De Leonibus, Elvira, Di Malta, Chiara, Escrevente, Cristina, Esposito, Alessandra, Grumati, Paolo, Hall, Michael J, Teodoro, Rita O, Lopes, Susana S, Luzio, J Paul, Monfregola, Jlenia, Montefusco, Sandro, Platt, Frances M, Polishuck, Roman, De Risi, Maria, Sambri, Irene, Soldati, Chiara, Seabra, Miguel C
المصدر: Traffic , 23 (5) pp. 238-269. (2022)
مصطلحات موضوعية: Endolysosomes, Lysosomal storage diseases, Lysosome biogenesis, Lysosome exocytosis, Lysosome-related organelles, Lysosomes, Membrane contact sites, TFEB, mTOR
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10146532/1/Eden_Traffic%20-%202022%20-%20Barral%20-%20Current%20methods%20to%20analyze%20lysosome%20morphology%20%20positioning%20%20motility%20and%20function.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10146532Test/
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5دورية أكاديمية
المؤلفون: Simon Körver, Sara A. J. van deSchraaf, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. vanSchaik, Mirjam Langeveld
المصدر: JIMD Reports, Vol 48, Iss 1, Pp 53-59 (2019)
مصطلحات موضوعية: Fabry disease, lysosomal storage diseases, mini mental state examination, MMSE, neurocognitive tests, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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6دورية أكاديمية
المؤلفون: Giancarlo Parenti, Diego L Medina, Andrea Ballabio
المصدر: EMBO Molecular Medicine, Vol 13, Iss 2, Pp n/a-n/a (2021)
مصطلحات موضوعية: autophagy, lysosomal biology, lysosomal storage diseases, lysosomes, Medicine (General), R5-920, Genetics, QH426-470
العلاقة: https://doi.org/10.15252/emmm.202012836Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/af55b965be18440e8fdcf0608db34707Test
الإتاحة: https://doi.org/10.15252/emmm.202012836Test
https://doaj.org/article/af55b965be18440e8fdcf0608db34707Test -
7
المؤلفون: Hiroki Tanaka, Daisuke Tsuji, Ryosuke Watanabe, Yukiya Ohnishi, Shindai Kitaguchi, Ryuto Nakae, Hiromi Teramoto, Jun Tsukimoto, Yuto Horii, Kohji Itoh
المصدر: Journal of Inherited Metabolic Disease. 45:1191-1202
مصطلحات موضوعية: Lysosomal Storage Diseases, Mice, Autophagy, Genetics, Animals, Lysosomes, SNARE Proteins, Endocytosis, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ba4f2396644c6f080f57a44c2a20a4Test
https://doi.org/10.1002/jimd.12558Test -
8دورية أكاديمية
المؤلفون: Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra
مصطلحات موضوعية: Exons, Humans, Introns, Lysosomal Storage Diseases, Nervous System, Mucolipidoses, Phenotype, Prognosis, Protein Domains, Transferases (Other Substituted Phosphate Groups), Mutation, Doenças Genéticas
العلاقة: Hum Mutat. 2019 Jul;40(7):842-864. doi:10.1002/humu.23748. Epub 2019 Apr 13; http://hdl.handle.net/10400.18/6606Test
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9دورية أكاديمية
المؤلفون: D. Ito, C. Ishikawa, N.D. Jeffery, K. Ono, M. Tsuboi, K. Uchida, O. Yamato, M. Kitagawa
المصدر: Journal of Veterinary Internal Medicine, Vol 32, Iss 2, Pp 797-804 (2018)
مصطلحات موضوعية: GM2 gangliosidosis, Lysosomal storage diseases, MRI, MRS, Veterinary medicine, SF600-1100
وصف الملف: electronic resource
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10
المؤلفون: Elizabeth Critchlow, Alexis C. Gimovsky, Huda B. Al-Kouatly, Neel S. Iyer, Carlos Ferreira
المصدر: Clinical Genetics. 100:493-503
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hydrops Fetalis, Mucopolysaccharidosis, Clinical Decision-Making, Prenatal diagnosis, Disease, Pregnancy, Hydrops fetalis, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Sialidosis, Genetics (clinical), business.industry, Incidence (epidemiology), Disease Management, medicine.disease, Lysosomal Storage Diseases, Molecular Diagnostic Techniques, Etiology, Female, Disease Susceptibility, business, Galactosialidosis, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ba31bce54e0b0aa35f1546232e6414Test
https://doi.org/10.1111/cge.14005Test
النص الكامل