المؤلفون: Roger Lawrence, Jeremy L. Van Vleet, Linley Mangini, Adam Harris, Nathan Martin, Wyatt Clark, Sanjay Chandriani, Jonathan H. LeBowitz, Roberto Giugliani, Alessandra d'Azzo, Gouri Yogalingam, Brett E. Crawford

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426919301132Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/a0f6f939f66e4358b688b3cdde4ec8b2Test

المؤلفون: Mika Aoyagi-Scharber, Danielle Crippen-Harmon, Roger Lawrence, Jon Vincelette, Gouri Yogalingam, Heather Prill, Bryan K. Yip, Brian Baridon, Catherine Vitelli, Amanda Lee, Olivia Gorostiza, Evan G. Adintori, Wesley C. Minto, Jeremy L. Van Vleet, Bridget Yates, Sara Rigney, Terri M. Christianson, Pascale M.N. Tiger, Melanie J. Lo, John Holtzinger, Paul A. Fitzpatrick, Jonathan H. LeBowitz, Sherry Bullens, Brett E. Crawford, Stuart Bunting

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 6, Iss C, Pp 43-53 (2017)

مصطلحات موضوعية: lysosomal storage disorder, mucopolysaccharidosis IIIB, MPS IIIB, Sanfilippo B, enzyme replacement therapy, intracerebroventricular delivery, glycosaminoglycan, neurodegeneration, mental retardation, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050117300748Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/391415b4d80b4db49263e27fbcc2640aTest

المؤلفون: Catlyn Cavender, Linley Mangini, Jeremy L Van Vleet, Carley Corado, Emma McCullagh, Heather L Gray-Edwards, Douglas R Martin, Brett E Crawford, Roger Lawrence

المصدر: PLoS ONE, Vol 15, Iss 12, p e0243006 (2020)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://doi.org/10.1371/journal.pone.0243006Test; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/107bc3d828c440d4a76bc745f2d101e6Test

الإتاحة: https://doi.org/10.1371/journal.pone.0243006Test
https://doaj.org/article/107bc3d828c440d4a76bc745f2d101e6Test

المؤلفون: Alexander Giaramita, Nathan Wise, Jon Vincelette, Rolando De Angelis, Brett E. Crawford, Sherry Bullens, Nicole Galicia, Melanie J. Lo, Jeremy L. Van Vleet, Sushmita M Roy, Gouri Yogalingam, Amanda R. Luu, Linley Mangini, Alessandra d'Azzo, Vishal Agrawal, Glenn Pacheco, Sylvia Fong, Jonathan H. LeBowitz, Terri Christianson, Hio Wong, Roger Lawrence, Britta Handyside, Harry J Sterling, Stuart Bunting, Chuck Hague, Joseph C Chen

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, safety, medicine.medical_specialty, GM1 gangliosidosis, Biochemistry, enzyme replacement therapy (ERT), 03 medical and health sciences, Mice, Internal medicine, Lysosome, biophysics, Lysosomal storage disease, medicine, Animals, cation-independent mannose-6-phosphate receptor, Enzyme Replacement Therapy, unfolded protein response (UPR), Molecular Biology, Ganglioside, Gangliosidosis, GM1, 030102 biochemistry & molecular biology, Chemistry, Chinese hamster ovary cell, Endoplasmic reticulum, neurodegeneration, toxicity, Enzyme replacement therapy, Cell Biology, medicine.disease, beta-Galactosidase, gene therapy, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, GLB1, lysosomal storage disease, Unfolded protein response, lysosome, endoplasmic reticulum stress

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1842a37d379f3461db62d067305f34f9Test
http://europepmc.org/articles/PMC7521651Test

المؤلفون: Emma McCullagh, Linley Mangini, Carley R. Corado, Jeremy L. Van Vleet, Roger Lawrence, Douglas R. Martin, Heather L. Gray-Edwards, Brett E. Crawford, Catlyn Cavender

المصدر: PLoS ONE, Vol 15, Iss 12, p e0243006 (2020)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Physiology, Urine, Biochemistry, Gangliosidoses, 0302 clinical medicine, Gangliosidoses, GM2, Medicine and Health Sciences, Metabolites, Phospholipids, Mammals, Cerebral Cortex, Multidisciplinary, biology, Tay-Sachs disease, Eukaryota, Brain, Ruminants, Lipids, Body Fluids, medicine.anatomical_structure, Vertebrates, Medicine, Occipital Lobe, Anatomy, Research Article, Genetic diseases, Medical conditions, Glycan, Science, Sandhoff disease, 03 medical and health sciences, Polysaccharides, Lysosome, medicine, Animals, Clinical genetics, Phospholipidosis, Sphingolipids, Sheep, GM2 gangliosidoses, Organisms, Biology and Life Sciences, medicine.disease, Sphingolipid, carbohydrates (lipids), Disease Models, Animal, Metabolism, 030104 developmental biology, Autosomal recessive diseases, Amniotes, Cats, biology.protein, Zoology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96a0d5396fc4f7f204ee6e0cb2aa0cffTest
https://doaj.org/article/107bc3d828c440d4a76bc745f2d101e6Test

المؤلفون: Brett E. Crawford, Adam Harris, Jeremy L. Van Vleet, Roberto Giugliani, Sanjay Chandriani, Roger Lawrence, Gouri Yogalingam, Linley Mangini, Nathan T. Martin, Wyatt T. Clark, Alessandra d'Azzo, Jonathan H. LeBowitz

المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)

مصطلحات موضوعية: Glycoconjugate, MPS, mucopolysaccharidosis, GRIL-LC/MS, glycan reductive isotope labeling liquid chromatography mass spectrometry, BMP, Bis(monoacylglycero) phosphate, TIC, total ion current, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, KS, keratan sulfate, Disease biomarkers, Beta-galactosidase, Hex, hexose, lcsh:QH301-705.5, chemistry.chemical_classification, lcsh:R5-920, 0303 health sciences, Gangliosidose GM1, biology, 030305 genetics & heredity, GlcNAc, N-acetylglucosamine, GLB1, Biochemistry, HexNAc, N-acetylhexosamine, lcsh:Medicine (General), Research Paper, Glycan, GM1 gangliosidosis, GLB1, β-galactosidase, A2G2, Oxford glycan naming designation for NA2 glycan, 03 medical and health sciences, Glycoanalysis, Glycolipid, dp, degree of polymerization, Genetics, Glycan metabolites, Molecular Biology, NRE, non-reducing end, m/z, mass over charge, Ganglioside, Man, mannose, carbohydrates (lipids), Gal, galactose, Enzyme, Biomarcadores, lcsh:Biology (General), chemistry, Galactose, biology.protein, XIC, extracted ion current, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fad1e65eec41e62a514a14a12ceec192Test