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1دورية 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)
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2دورية 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
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3دورية 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
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4دورية أكاديمية
المؤلفون: Juliana Inês Santos, Mariana Gonçalves, Liliana Matos, Luciana Moreira, Sofia Carvalho, Maria João Prata, Maria Francisca Coutinho, Sandra Alves
المصدر: Life, Vol 12, Iss 5, p 608 (2022)
مصطلحات موضوعية: lysosomal storage diseases (LSDs), mucopolysaccharidoses (MPSs), RNA-based therapies, antisense oligonucleotides (ASOs), splice-switching oligonucleotides (SSOs), U1 snRNA (small nuclear RNA), Science
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Marisa Encarnação, Maria Francisca Coutinho, Lisbeth Silva, Diogo Ribeiro, Souad Ouesleti, Teresa Campos, Helena Santos, Esmeralda Martins, Maria Teresa Cardoso, Laura Vilarinho, Sandra Alves
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 17, p 6355 (2020)
مصطلحات موضوعية: lysosomal storage diseases (LSDs), diagnostics odyssey, next-generation sequencing (NGS), molecular genetic testing (MGT), bioinformatics analysis, GM2 Gangliosidosis, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Maria Francisca Coutinho, Juliana Inês Santos, Liliana S. Mendonça, Liliana Matos, Maria João Prata, Amália S. Jurado, Maria C. Pedroso de Lima, Sandra Alves
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 16, p 5732 (2020)
مصطلحات موضوعية: lysosomal storage diseases (LSDs), neuropathy, substrate reduction therapy (SRT), RNA interference (RNAi), siRNA nanodelivery systems, stable nucleic acid lipid particles (SNALPs), Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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7دورية أكاديمية
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المؤلفون: Maria C. Pedroso de Lima, Liliana Mendonça, Sandra Alves, Liliana Matos, Maria Francisca Coutinho, Juliana Inês Santos, Maria João Prata, Amália S. Jurado
المساهمون: Instituto de Investigação e Inovação em Saúde
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 5732, p 5732 (2020)مصطلحات موضوعية: Central Nervous System Diseases / metabolism, Small interfering RNA, Stable Nucleic Acid Lipid Particles (SNALPs), Lysosomal Storage Diseases / drug therapy, substrate reduction therapy (SRT), Review, RNA, Small Interfering / metabolism, lcsh:Chemistry, Drug Delivery Systems, Drug Stability, Central Nervous System Diseases, RNA interference, Lysosomal storage disease, RNA, Small Interfering, Receptor, lcsh:QH301-705.5, Spectroscopy, Lysosomal Storage Diseases / complications, Lysosomal Storage Diseases / genetics, Liposome, Chemistry, Brain, General Medicine, RNA, Small Interfering / administration & dosage, Computer Science Applications, Cell biology, RNA, Double-Stranded / metabolism, Brain / metabolism, Nanoparticles / chemistry, RNA Interference, Liposomes / chemistry, Substrate Reduction Therapy (SRT), RNA Interference (RNAi), RNA interference (RNAi), Central Nervous System Diseases / genetics, Stable nucleic acid lipid particle, Lysosomal Storage Diseases / metabolism, Catalysis, Inorganic Chemistry, Drug Delivery Systems / methods, medicine, Animals, Central Nervous System Diseases / drug therapy, Humans, Substrate reduction therapy, Physical and Theoretical Chemistry, Molecular Biology, RNA, Double-Stranded, Lysosomal Storage Diseases (LSDs), Organic Chemistry, lysosomal storage diseases (LSDs), siRNA nanodelivery systems, medicine.disease, siRNA Nanodelivery Systems, Neuropathy, Doenças Genéticas, stable nucleic acid lipid particles (SNALPs), Lysosomal Storage Diseases, lcsh:Biology (General), lcsh:QD1-999, Central Nervous System Diseases / complications, Liposomes, Nucleic acid, Nanoparticles, neuropathy
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a686a98e710a8a86dbce40343c85c24
https://hdl.handle.net/10400.18/7380 -
9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: Sestito, S., Parisi, F., Tallarico, V., Tarsitano, F., Roppa, K., Pensabene, L., Chimenz, R., GIORGIA CERAVOLO, Calabro, M. P., Sarro, R., Moricca, M. T., Bonapace, G., Concolino, D.
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Lysosomal storage diseases (LSDs), Heart Diseases, Pompe disease (PD), valvular disease, Heart, Gaucher disease, Anderson-Fabry disease (AFD), Mucopolysaccharidoses (MPSs), Lysosomal Storage Diseases, Fabry Disease, Humans, Enzyme replacement therapy (ERT), Enzyme Replacement Therapy, Anderson-Fabry disease (AFD), cardiomyopathy, Enzyme replacement therapy (ERT), Gaucher disease, Heart, Lysosomal storage diseases (LSDs), Mucopolysaccharidoses (MPSs), Pompe disease (PD), valvular disease, cardiomyopathy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2c2283abf123aff86fddb663a8ebf80b
https://hdl.handle.net/11570/3178862