المؤلفون: Deltuvaite-Thomas, Vaiva^{Aff1, Aff2, IDs13023023029438_cor1}, De Backer, Mickaël, Parker, Samantha^{Aff4, Aff7}, Deneux, Marie, Polgreen, Lynda E., O’Neill, Cara, Salvaggio, Samuel, Buyse, Marc^{Aff1, Aff2}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Monaco, Antonio, Maffia, Veronica, Sorrentino, Nicolina Cristina, Sambri, Irene, Ezhova, Yulia, Giuliano, Teresa, Cacace, Vincenzo, Nusco, Edoardo, De Risi, Maria, De Leonibus, Elvira, Schrader, Thomas, Klärner, Frank-Gerrit, Bitan, Gal, Fraldi, Alessandro

المصدر: Molecular Therapy. 28(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Alzheimer's Disease, Aging, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Dementia, Mucopolysaccharidoses (MPS), Orphan Drug, Neurodegenerative, Infectious Diseases, Rare Diseases, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyloid, Animals, Autophagy, Brain, Bridged-Ring Compounds, Cell Body, Disease Models, Animal, Male, Mice, Mucopolysaccharidosis III, Neurodegenerative Diseases, Organophosphates, Treatment Outcome, amyloid aggregation, autophagy, lysosomal storage disease, molecular tweezers, mucopolysaccharidosis type IIIA, Technology, Medical and Health Sciences, Biotechnology, Genetics, Clinical sciences, Medical biotechnology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/282340cs

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Sara Marcó, Virginia Haurigot, Maria Luisa Jaén, Albert Ribera, Víctor Sánchez, Maria Molas, Miguel Garcia, Xavier León, Carles Roca, Xavier Sánchez, Joan Bertolin, Jennifer Pérez, Gemma Elias, Marc Navarro, Ana Carretero, Martí Pumarola, Anna Andaluz, Yvonne Espada, Sonia Añor, Fatima Bosch

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 370-389 (2021)

مصطلحات موضوعية: adeno-associated viral vector, central nervous system, gene therapy, lysosomal storage disease, mucopolysaccharidosis type IIIA, durability, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050121001558; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/6c76bc2619ae4a508cc75183a3090a01

المؤلفون: He, Xingxuan, Schuchman, Edward H., Simonaro, Calogera M.

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: Mucopolysaccharidosis type IIIA, Sanfilippo Syndrome, sulfamidase, diagnostic assay

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100301

المؤلفون: Guo, Ningning^Aff13, DeAngelis, Victor^Aff13, Zhu, Changzhi^Aff13, Schuchman, Edward H.^Aff13, Simonaro, Calogera M.^Aff13

المساهمون: Baumgartner, Matthias, Series Editor^{Aff1, Aff8}, Patterson, Marc, Series Editor^{Aff2, Aff9}, Rahman, Shamima, Series Editor^{Aff3, Aff10}, Peters, Verena, Series Editor^{Aff4, Aff12}, Morava, Eva, Editor-in-Chief^{Aff5, Aff7}, Zschocke, Johannes, Series Editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 43. 43:37-52

المؤلفون: Xingxuan He, Edward H. Schuchman, Calogera M. Simonaro

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Mucopolysaccharidosis type IIIA, Sanfilippo Syndrome, sulfamidase, diagnostic assay, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100301&tlng=en; https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/0191cc6b9e5d42ee98bbf73ee8a79468

المؤلفون: Virginia Haurigot, Xavier Sanchez, Miguel Garcia, Gemma Elias, Martí Pumarola, Anna Andaluz, Ana Carretero, Xavier León, Carles Roca, Fatima Bosch, Maria Luisa Jaén, Jennifer Pérez, Maria Molas, Victor Sanchez, Joan Bertolin, Sara Marcó, Yvonne Espada, Sònia Añor, Albert Ribera, Marc Navarro

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 370-389 (2021)
Molecular Therapy. Methods & Clinical Development

مصطلحات موضوعية: safety, Pathology, medicine.medical_specialty, brain, Genetic enhancement, Central nervous system, Lysosomal storage disease, QH426-470, cerebrospinal fluid, Durability, Viral vector, Gene therapy, Cerebrospinal fluid, Genetics, medicine, Dorsal root ganglia, Molecular Biology, Mucopolysaccharidosis Type IIIA, Adeno-associated viral vector, QH573-671, Mucopolysaccharidosis type IIIA, business.industry, dorsal root ganglia, Brain, mucopolysaccharidosis type IIIA, central nervous system, Spinal cord, medicine.disease, gene therapy, medicine.anatomical_structure, lysosomal storage disease, Peripheral nervous system, durability, Molecular Medicine, Original Article, adeno-associated viral vector, Safety, Cytology, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8984b8c060fd37f381f7723d0eedd7ae
https://doi.org/10.1016/j.omtm.2021.09.017

المؤلفون: David Alexanderian, Frits A. Wijburg, Chester B. Whitley, Elsa G Shapiro, Serena Gasperini, Joseph Muenzer, Maureen Cleary, Caroline Sevin, Nicole Muschol, Mireia del Toro

المساهمون: Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development

المصدر: Molecular genetics and metabolism, 134(1-2), 175-181. Academic Press Inc.

مصطلحات موضوعية: Central Nervous System, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Gross motor skill, Lysosomal storage disease, Recombinant human heparan-N-sulfatase, Sanfilippo syndrome type A, Biochemistry, Bayley Scales of Infant Development, Mucopolysaccharidosis III, Endocrinology, Internal medicine, Genetics, medicine, Humans, Cognitive Dysfunction, Cognitive decline, Toddler, Adverse effect, Molecular Biology, Mucopolysaccharidosis Type IIIA, Injections, Spinal, Mucopolysaccharidosis type IIIA, business.industry, Infant, Enzyme replacement therapy, Discontinuation, Treatment Outcome, Research Design, Child, Preschool, Female, Sulfatases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7f790338924cab3b21f3f2483c213e6
https://doi.org/10.1016/j.ymgme.2021.07.001

المؤلفون: Harrington, Magdalena^{Aff1, Aff2}, Hareendran, Asha^Aff3, Skalicky, Anne^Aff3, Wilson, Hilary^{Aff3, Aff4}, Clark, Marci^Aff5, Mikl, Jaromir^{Aff1, Aff6}

المصدر: Journal of Patient-Reported Outcomes. 3(1)