المؤلفون: Thomas, Sophie¹ (AUTHOR), Morrison, Alexandra² (AUTHOR) a.morrison@rd-rp.com, Morton, Georgina³ (AUTHOR), Roberts, Pat³ (AUTHOR), Clark, Vivienne⁴ (AUTHOR), Imrie, Jackie⁴ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 2/25/2024, Vol. 19 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *CAREGIVERS, *LYSOSOMAL storage diseases, *HEMATOPOIETIC stem cells, *SYMPTOM burden, *PATIENTS

مصطلحات جغرافية: UNITED Kingdom, IRELAND

المؤلفون: Medaer, Louise, David, Dries, Smits, Maxime, Levtchenko, Elena, Sampaolesi, Maurilio, Gijsbers, Rik

المصدر: Cells (2073-4409); Apr2024, Vol. 13 Issue 7, p646, 20p

مصطلحات موضوعية: RECESSIVE genes, CYSTINE, LYSOSOMAL storage diseases, GENETIC mutation

المؤلفون: Kulkarni, Akhil, Chen, Tiffany, Sidransky, Ellen, Han, Tae-Un

المصدر: Genes; Mar2024, Vol. 15 Issue 3, p364, 18p

مصطلحات موضوعية: GAUCHER'S disease, GENE therapy, VIRAL genes, ENZYME replacement therapy, LYSOSOMAL storage diseases, GENETIC vectors, DYSPLASIA

المؤلفون: Schwab, Marisa E, Brown, Julia EH, Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C, Gallagher, Renata C, Harmatz, Paul, MacKenzie, Tippi C

المصدر: Orphanet Journal of Rare Diseases. 17(1)

مصطلحات موضوعية: Genetics, Orphan Drug, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, Pediatric, Good Health and Well Being, Attitude, Clinical Trials, Phase I as Topic, Enzyme Replacement Therapy, Female, Fetal Therapies, Glycogen Storage Disease Type II, Humans, Lysosomal Storage Diseases, Parents, Pregnancy, Surveys and Questionnaires, Lysosomal storage disease, Mucopolysaccharidosis, Fetal therapy, Enzyme replacement therapy, Gene therapy, Patient attitudes, Clinical trial, ELSI (ethical, legal and social implications), ELSI, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79c7w0mvTest

المؤلفون: Rajan, Deepa S¹ (AUTHOR), Escolar, Maria L¹ (AUTHOR) MLE26@pitt.edu

المصدر: Metabolic Brain Disease. Oct2022, Vol. 37 Issue 7, p2245-2256. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *THERAPEUTICS, *GENETIC disorders, *ENZYME replacement therapy, *GENETIC mutation, *LYSOSOMES

المؤلفون: Vyas, Meera, Deschenes, Natalie M., Osmon, Karlaina J. L., Chen, Zhilin, Ahmad, Imtiaz, Kot, Shalini, Thompson, Patrick, Richmond, Chris, Gray, Steven J., Walia, Jagdeep S.

المصدر: International Journal of Molecular Sciences; Oct2023, Vol. 24 Issue 19, p14611, 15p

مصطلحات موضوعية: GENE therapy, GENETIC vectors, ADENOVIRUSES, FOOT & mouth disease, ADENO-associated virus, CENTRAL nervous system, LYSOSOMAL storage diseases, GANGLIOSIDES, LABORATORY mice

المؤلفون: Gröschel, S., Fumagalli, F., Calbi, V., Zambon, A., Gallo, V., Reupero, S., Baldoli, C., Laugwitz, L., Essing, M., Chanson, C., Richardson, A., Brooks, J., Janzen, N., Kasper, D., Lang, P., Aiuti, A.

المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

مصطلحات موضوعية: NEWBORN screening, GENE therapy, LYSOSOMAL storage diseases, COGNITION disorders, EARLY diagnosis

مصطلحات جغرافية: MILAN (Italy)

المؤلفون: Zhu, Wei, Ou, Li, Zhang, Lin, Clark, Isaac H., Zhang, Ying, Zhu, Xiao-Hong, Whitley, Chester B., Hackett, Perry B., Low, Walter C., Chen, Wei

المصدر: Scientific Reports; 8/5/2023, Vol. 13 Issue 1, p1-11, 11p

مصطلحات موضوعية: LARGE-scale brain networks, GENE therapy, BRAIN mapping, MICE, LYSOSOMAL storage diseases, ADENO-associated virus

المؤلفون: Sitarska, Dominika¹ (AUTHOR) dominika.sitarska@gmail.com, Tylki-Szymańska, Anna² (AUTHOR), Ługowska, Agnieszka¹ (AUTHOR) alugipin@yahoo.com

المصدر: Metabolic Brain Disease. Dec2021, Vol. 36 Issue 8, p2215-2221. 7p.

مصطلحات موضوعية: *LYSOSOMES, *LYSOSOMAL storage diseases, *GENETIC disorders, *NERVOUS system, *NEURODEGENERATION, *METABOLIC disorders, *BLOOD-brain barrier

المؤلفون: Hughes, Michael Paul, Nelvagal, Hemanth Ramesh, Coombe-Tennant, Oliver, Smith, Dave, Smith, Claire, Massaro, Giulia, Poupon-Bejuit, Laura, Platt, Frances Mary, Rahim, Ahad Abdul

المصدر: Cells (2073-4409); Jun2023, Vol. 12 Issue 12, p1619, 21p

مصطلحات موضوعية: GENE therapy, LABORATORY mice, ANIMAL disease models, NIEMANN-Pick diseases, LYSOSOMAL storage diseases