المؤلفون: Gutiérrez-Solana, Luis, Ruiz-Garcia, Matilde, Jones, Simon, Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Hale, Michael, Wu, Yuna, Yee, Karen, Whiteman, David, Alexanderian, David, Muenzer, Joseph, Burton, Barbara, Harmatz, Paul

المصدر: Molecular Genetics and Metabolism. 137(1-2)

مصطلحات موضوعية: Cognitive impairment, Enzyme replacement therapy, Idursulfase, Intrathecal, Mucopolysaccharidosis II (MPS II), Neuronopathic, Child, Child, Preschool, Humans, Infant, Newborn, Enzyme Replacement Therapy, Iduronate Sulfatase, Iduronic Acid, Mucopolysaccharidosis II

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7dn784mcTest

المؤلفون: Gutiérrez-Solana, Luis, Ruiz-Garcia, Matilde, Jones, Simon, Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Hale, Michael, Wu, Yuna, Yee, Karen, Whiteman, David, Alexanderian, David, Muenzer, Joseph, Burton, Barbara, Harmatz, Paul

المصدر: Molecular Genetics and Metabolism. 137(1-2)

مصطلحات موضوعية: Cognitive impairment, Idursulfase, Intrathecal, MPS II, Mucopolysaccharidosis II, Child, Child, Preschool, Humans, Enzyme Replacement Therapy, Glycosaminoglycans, Iduronate Sulfatase, Iduronic Acid, Mucopolysaccharidosis II, Multiple Myeloma

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2n0582q9Test

المؤلفون: Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K

المصدر: Orphanet Journal of Rare Diseases. 16(1)

مصطلحات موضوعية: Digestive Diseases, Mucopolysaccharidoses (MPS), Pediatric, Clinical Research, Orphan Drug, Rare Diseases, Child, Enzyme Replacement Therapy, Humans, Iduronate Sulfatase, Infant, Male, Mucopolysaccharidosis II, Treatment Outcome, MPS II, Hunter syndrome, Lysosomal storage disease, Statistical modeling, Disease registry, Idursulfase, Enzyme replacement therapy, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3dd654xjTest

المؤلفون: Alfredo Uribe‐Ardila, Johana Ramirez‐Borda, Adis Ayala

المصدر: JIMD Reports, Vol 63, Iss 5, Pp 475-483 (2022)

مصطلحات موضوعية: arylsulfatase B, dried blood spots, enzymatic diagnosis, iduronate 2‐sulfatase, lysosomal disorders, mucopolysaccharidosis, 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/3b560e6456354b84a10103c99b5cabd5Test

المؤلفون: Muenzer, Joseph, Jones, Simon A, Tylki-Szymańska, Anna, Harmatz, Paul, Mendelsohn, Nancy J, Guffon, Nathalie, Giugliani, Roberto, Burton, Barbara K, Scarpa, Maurizio, Beck, Michael, Jangelind, Yvonne, Hernberg-Stahl, Elizabeth, Larsen, Maria Paabøl, Pulles, Tom, Whiteman, David AH

المصدر: Orphanet Journal of Rare Diseases. 12(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mucopolysaccharidoses (MPS), Rare Diseases, Clinical Research, Databases, Factual, Enzyme Replacement Therapy, Humans, Iduronate Sulfatase, Mucopolysaccharidosis II, Registries, Patient registry, Mucopolysaccharidosis type II, Hunter syndrome, Enzyme replacement therapy, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7n3380tqTest

المؤلفون: Maria Fuller, David Ketteridge

المصدر: JIMD Reports, Vol 60, Iss 1, Pp 10-14 (2021)

مصطلحات موضوعية: amniotic fluid, hunter syndrome, iduronate 2‐sulfatase, lysosomal storage disorder, mucopolysaccharidosis type II, prenatal diagnosis, 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/b371d7866d7b47219ae3aeb7473698ceTest

المؤلفون: Maccari F., Rigon L., Mantovani V., Galeotti F., Salvalaio M., D'Avanzo F., Zanetti A., Capitani F., Gabrielli O., Tomanin R., Volpi N.

المساهمون: Maccari, F., Rigon, L., Mantovani, V., Galeotti, F., Salvalaio, M., D'Avanzo, F., Zanetti, A., Capitani, F., Gabrielli, O., Tomanin, R., Volpi, N.

مصطلحات موضوعية: Dermatan-sulfate, Enzyme replacement therapy, Glycosaminoglycan, Heparan-sulfate, Iduronate 2-sulfatase, Mucopolysaccharidosis type II, Animal, Biomarker, Dermatan Sulfate, Disaccharide, Disease Models, Heparitin Sulfate, Mice, Knockout, Body Fluid, Mucopolysaccharidosis II

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35816218; info:eu-repo/semantics/altIdentifier/wos/WOS:000825080400001; volume:100; issue:8; firstpage:1169; lastpage:1179; journal:JOURNAL OF MOLECULAR MEDICINE; http://hdl.handle.net/11380/1287532Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133862006

الإتاحة: https://doi.org/10.1007/s00109-022-02221-3Test
http://hdl.handle.net/11380/1287532Test

المؤلفون: Casamassa, Alessia, Zanetti, Alessandra, Ferrari, Daniela, Lombardi, Ivan, Galluzzi, Gaia, D'Avanzo, Francesca, Cipressa, Gabriella, Bertozzi, Alessia, Torrente, Isabella, Vescovi, Angelo Luigi, Tomanin, Rosella, Rosati, Jessica

المساهمون: Casamassa, A, Zanetti, A, Ferrari, D, Lombardi, I, Galluzzi, G, D'Avanzo, F, Cipressa, G, Bertozzi, A, Torrente, I, Vescovi, A, Tomanin, R, Rosati, J

مصطلحات موضوعية: Glycosaminoglycan, Human, Iduronic Acid, Phenotype, Iduronate Sulfatase, Induced Pluripotent Stem Cell, Mucopolysaccharidosis II

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35759972; info:eu-repo/semantics/altIdentifier/wos/WOS:000827285400001; volume:63; issue:August 2022; numberofpages:5; journal:STEM CELL RESEARCH; http://hdl.handle.net/10281/391463Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133866132

الإتاحة: https://doi.org/10.1016/j.scr.2022.102846Test
http://hdl.handle.net/10281/391463Test

المؤلفون: A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Мucopolysaccharidosis, Hunter syndrome, Turner syndrome, Iduronate 2-sulfatase, IDS gene, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-019-0807-xTest; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/1a8b6ef112084eeaba81b414a6ac1563Test

المؤلفون: Olgun Guvench, Devon Martin, Megan Greene

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 473

مصطلحات موضوعية: glucose, GlcNAc, galactose, GalNAc, mannose, xylose, fucose, Neu5Ac, glucuronate, iduronate, tetrahydropyran

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Biophysics; https://dx.doi.org/10.3390/ijms23010473Test

الإتاحة: https://doi.org/10.3390/ijms23010473Test