المؤلفون: Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Lysosomal diseases, Transition from childhood to adulthood, Patient survey, Patient opinion, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/8505fbb97e2847ea9c50de0114925eb6Test

المؤلفون: Sarah Kim, Michael J. Przybilla, Chester B. Whitley, Li Ou, Mahmoud Al-Kofahi, Jeanine R. Jarnes

المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100917- (2022)

مصطلحات موضوعية: Lysosomal diseases, Mucopolysaccharidosis type I, Fusion enzyme, Gene therapy, Pharmacology, Pharmacokinetics, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426922000775Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/44e5cde7dfde4ee09e26ba673bdc57a7Test

المؤلفون: Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, Laura Texido, Celia Painous, Yaroslau Compta, Maria José Martí, Antonia Ribes, Laura Gort

المصدر: Journal of Clinical Medicine; Volume 11; Issue 6; Pages: 1749

مصطلحات موضوعية: Parkinson’s disease, lysosomal, mitochondrial, TFEB, risk-factor, WES, lysosomal diseases, mitochondrial function

وصف الملف: application/pdf

العلاقة: Clinical Neurology; https://dx.doi.org/10.3390/jcm11061749Test

الإتاحة: https://doi.org/10.3390/jcm11061749Test

المؤلفون: Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100803- (2021)

مصطلحات موضوعية: Lysosomal diseases, Chitotriosidase, GM1-gangliosidosis, GM2-gangliosidosis, Mucopolysaccharidosis, Gaucher, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921000975Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/436c57c5dc3c47489ca364965e473828Test

المؤلفون: David A. Wenger, Paola Luzi

المصدر: JIMD Reports, Vol 54, Iss 1, Pp 61-67 (2020)

مصطلحات موضوعية: genetic complementation, GM1 gangliosidosis, Krabbe disease, lysosomal diseases, metachromatic leukodystrophy, newborn screening, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/f0d399f83438449fab47605d43734b1aTest

المؤلفون: Caroline Sevin, Kumaran Deiva

المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)

مصطلحات موضوعية: lysosomal diseases, gene therapy, Adeno-associated virus, lentival vector, CNS-central nervous system, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2021.624988/fullTest; https://doaj.org/toc/2296-889XTest

الوصول الحر: https://doaj.org/article/038f5fba014b40649f35be4ec14fb0afTest

المؤلفون: Encarnação, Marisa, Coutinho, Maria Francisca, Cho, Soo-Min, Cardoso, Maria Teresa, Chaves, Paulo, Gaspar, Paulo, Santos, Juliana Inês, Ribeiro, Isaura, Quelhas, Dulce, Lacerda, Lúcia, Leão-Teles, Elisa, Futerman, Anthony H., Vilarinho, Laura, Alves, Sandra

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Lysosomal Diseases, Niemann-Pick type C, NGS (Gene panels and RNA-seq), Doenças Genéticas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/7046Test

المؤلفون: Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese

المصدر: Indian Journal of Pathology and Microbiology, Vol 62, Iss 3, Pp 457-460 (2019)

مصطلحات موضوعية: CTNS gene, cysteamine, cystinosis, lysosomal diseases, nephropathic cystinosis, Pathology, RB1-214, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=3;spage=457;epage=460;aulast=MatthaiTest; https://doaj.org/toc/0377-4929Test

الوصول الحر: https://doaj.org/article/0ed899b8db4945d0bcd9aed75bcdfac2Test

المؤلفون: Massaro, G., Geard, A.F., Liu, W., Coombe-Tennant, O., Waddington, S.N., Baruteau, J., Gissen, P., Rahim, A.A.

المساهمون: Amy F Geard, Simon N Waddington: Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.

مصطلحات موضوعية: Lysosomal diseases, Gene therapy, Viral vectors, Gene Editing, SDG-03 Good health and well-being

وصف الملف: application/pdf

العلاقة: Massaro G, Geard AF, Liu W, Coombe-Tennant O, Waddington SN, Baruteau J, Gissen P, Rahim AA. Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development. Biomolecules. 2021 Apr 20;11(4):611. doi:10.3390/biom11040611.; Biomolecules; https://pubmed.ncbi.nlm.nih.gov/33924076Test/; https://hdl.handle.net/11288/596209Test

الإتاحة: https://doi.org/10.3390/biom11040611Test
https://pubmed.ncbi.nlm.nih.gov/33924076Test/
https://hdl.handle.net/11288/596209Test

المؤلفون: Massaro, G, Geard, AF, Liu, W, Coombe-Tennant, O, Waddington, SN, Baruteau, J, Gissen, P, Rahim, AA

المصدر: Biomolecules , 11 (4) , Article 611. (2021)

مصطلحات موضوعية: lysosomal diseases, gene therapy, viral vectors

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10126517/1/biomolecules-11-00611-v2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10126517Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10126517/1/biomolecules-11-00611-v2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10126517Test/