-
1دورية أكاديمية
المؤلفون: Chakraborty, Soumalya, Gupta, Aditya Kumar, Gupta, Neerja, Meena, Jagdish Prasad, Seth, Rachna, Kabra, MadhulikaAff1, IDs12098024051104_cor6
المصدر: Indian Journal of Pediatrics. 91(8):830-838
-
2دورية أكاديمية
المؤلفون: Emily McDool, Philip Powell, Jill Carlton
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
مصطلحات موضوعية: Patient reported outcome measures (PROMs), Health-related quality of life (HRQoL), Lysosomal Storage Disorders (LSDs), Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
-
3دورية أكاديمية
المؤلفون: Tanapat Pornsukjantra, Nongluk Saikachain, Nareerat Sutjarit, Arthaporn Khongkrapan, Alisa Tubsuwan, Kanit Bhukhai, Thipwimol Tim-Aroon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Gaucher disease, iPSCs-derived neurons, ER stress, UPR, LSDs, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
-
4دورية أكاديمية
المؤلفون: Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
المصدر: JIMD Reports, Vol 65, Iss 2, Pp 85-101 (2024)
مصطلحات موضوعية: adult‐onset LSDs, Fabry disease, Gaucher disease, p.Leu483pro, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
-
5دورية أكاديمية
المؤلفون: Deng, Mulan, Zhou, Hongyu, He, Shaomei, Qiu, Haoheng, Wang, Yanping, Zhao, April Yuanyi, Mu, YunpingAff1, IDs13023023028940_cor7, Li, FanghongAff1, IDs13023023028940_cor8, Zhao, Allan ZijianAff1, IDs13023023028940_cor9
المصدر: Orphanet Journal of Rare Diseases. 18(1)
-
6مؤتمر
المؤلفون: Qian, Qing, Cui, Yunhe
المصدر: 2020 5th International Conference on Computer and Communication Systems (ICCCS) Computer and Communication Systems (ICCCS), 2020 5th International Conference on. :680-684 May, 2020
Relation: 2020 5th International Conference on Computer and Communication Systems (ICCCS)
-
7دورية أكاديمية
المؤلفون: Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Fabry disease (FD), Adeno-associated viral 2/8 (AAV2/8), α-galactosidase A (α-Gal A), Globotriaosylceramide (Gb3), Globotriaosylsphingosine (Lyso-Gb3), Lysosomal storage diseases (LSDs), Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
-
8دورية أكاديمية
المؤلفون: Iris Valeria Servín Muñoz, Daniel Ortuño-Sahagún, Christian Griñán-Ferré, Mercè Pallàs, Celia González-Castillo
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 7, p 3806 (2024)
مصطلحات موضوعية: lysosome, lysosomal storage diseases (LSDs), cholesterol, protein degradation, protein folding, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
9دورية أكاديمية
المؤلفون: McDool, Emily, Powell, Philip, Carlton, JillAff1, IDs13023024032560_cor3
المصدر: Orphanet Journal of Rare Diseases. 19(1)
-
10دورية أكاديمية
المؤلفون: Pornsukjantra, Tanapat, Saikachain, Nongluk, Sutjarit, Nareerat, Khongkrapan, Arthaporn, Tubsuwan, Alisa, Bhukhai, Kanit, Tim-Aroon, Thipwimol, Anurathapan, Usanarat, Hongeng, Suradej, Asavapanumas, NithiAff2, IDs41598024598346_cor10
المصدر: Scientific Reports. 14(1)