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1دورية أكاديمية
المؤلفون: Marcelina Malinowska, Wioletta Nowicka, Anna Kloska, Grzegorz Węgrzyn, Joanna Jakóbkiewicz-Banecka
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 4, p 2371 (2024)
مصطلحات موضوعية: mucopolysaccharidosis type I, glycosaminoglycans, laronidase, genistein, combination therapy, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/4/2371Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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2دورية أكاديمية
المؤلفون: Magdalena Węsierska, Anna Kloska, Diego L. Medina, Joanna Jakóbkiewicz-Banecka, Magdalena Gabig-Cimińska, Marta Radzińska, Marta Moskot, Marcelina Malinowska
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 1058, p 1058 (2022)
مصطلحات موضوعية: flavonoids, GAG metabolism, gene expression, mucopolysaccharidosis type I, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/23/3/1058Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/ae1ce8ecbeef425eaddc22216d165fbdTest
الإتاحة: https://doi.org/10.3390/ijms23031058Test
https://doaj.org/article/ae1ce8ecbeef425eaddc22216d165fbdTest -
3دورية أكاديمية
المؤلفون: Giada De Ponti, Samantha Donsante, Marta Frigeni, Alice Pievani, Alessandro Corsi, Maria Ester Bernardo, Mara Riminucci, Marta Serafini
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 11168, p 11168 (2022)
مصطلحات موضوعية: lysosomal storage disease, mucopolysaccharidoses, mucopolysaccharidosis type I, lysosomal alpha-L-iduronidase, glycosaminoglycans, endochondral bone formation, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/23/19/11168Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/a0257bee3d63475a9144d1ed851f7cf4Test
الإتاحة: https://doi.org/10.3390/ijms231911168Test
https://doaj.org/article/a0257bee3d63475a9144d1ed851f7cf4Test -
4دورية أكاديمية
المؤلفون: Christiane S. Hampe, Brianna D. Yund, Paul J. Orchard, Troy C. Lund, Jacob Wesley, R. Scott McIvor
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 7888, p 7888 (2021)
مصطلحات موضوعية: mucopolysaccharidosis type I, mucopolysaccharidosis type II, glycosaminoglycans, dermatan sulfate, heparin sulfate, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/22/15/7888Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/a573123ce15e4b0a8552678bdfabf6e1Test
الإتاحة: https://doi.org/10.3390/ijms22157888Test
https://doaj.org/article/a573123ce15e4b0a8552678bdfabf6e1Test -
5دورية أكاديمية
المؤلفون: Tamer Mansour, Kevin Woolard, Karen L. Vernau, Devin Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore, Marguerite F. Knipe, Haitham A. Seada, Tina M. Cowan, Miriam Aguilar, C. Titus Brown, Danika L. Bannasch
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Neurodegeneration with Brain Iron Accumulation, Neurology, Neuroscience, Life Sciences, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, FOS Chemical sciences, Chemistry, Physical Sciences, Lysosomal Storage Disorders, Mucopolysaccharidoses, Lysosomal storage disease, Coat, Breed, Mucopolysaccharidosis type I, Mucopolysaccharidosis, Mutation, Biology, Disease, Allele, Pathology, Genetics, Enzyme replacement therapy, Gene, Paleontology
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6دورية أكاديمية
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 5634, p 5634 (2020)
مصطلحات موضوعية: busulfan, mucopolysaccharidosis type I, Hurler syndrome, pharmacokinetics, pediatric, hematopoietic cell transplantation, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/21/16/5634Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/faa4482633974fa78bd29061edd8c0cfTest
الإتاحة: https://doi.org/10.3390/ijms21165634Test
https://doaj.org/article/faa4482633974fa78bd29061edd8c0cfTest -
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المؤلفون: Marco Maccarana, Jianping Fang, Edgar M. Pera, Emil Tykesson, Anders Malmström, Giancarlo Ghiselli, Jin-Ping Li, Nadège Gouignard
المصدر: Glycobiology
مصطلحات موضوعية: Iduronic Acid, AcademicSubjects/SCI01000, Mucopolysaccharidosis I, Iduronic acid, Isoindoles, Biochemistry, Dermatan sulfate, Glycosaminoglycan, Mucopolysaccharidosis type I, chemistry.chemical_compound, Structure-Activity Relationship, chondroitin dermatan sulfate, Organoselenium Compounds, Humans, Glycosaminoglycans, chemistry.chemical_classification, Genetic Disorders of Glycosylation, Dose-Response Relationship, Drug, Molecular Structure, Ebselen, Catabolism, mucopolysaccharidosis type I, Heparan sulfate, Fibroblasts, Molecular biology, substrate reduction therapy, Enzyme, HEK293 Cells, chemistry, epimerases, ebselen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eddafd295ce45b14c97b56d944e522dTest
http://europepmc.org/articles/PMC8600295Test -
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المؤلفون: Iliana M. Peña-Gomar, Magdalena Cerón, José L. Jiménez-Mariscal, César A. Reyes-López, Jorge L. Rosas-Trigueros
المصدر: The Protein Journal. 40:68-77
مصطلحات موضوعية: 0303 health sciences, Mutation, biology, Chemistry, Mucopolysaccharidosis, 030302 biochemistry & molecular biology, Organic Chemistry, Bioengineering, medicine.disease_cause, medicine.disease, Biochemistry, Molecular biology, Phenotype, Enzyme assay, Analytical Chemistry, 03 medical and health sciences, Exon, Mucopolysaccharidosis type I, biology.protein, medicine, Iduronidase, Gene, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0140c7fd36cf970e0e978cb63bf52ef6Test
https://doi.org/10.1007/s10930-020-09950-9Test -
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المصدر: Molecular Biology Reports. 48:363-370
مصطلحات موضوعية: Male, 0301 basic medicine, Cell type, Mucopolysaccharidosis I, Mucopolysaccharidosis, Mice, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Lysosome, Genetics, medicine, Lysosomal storage disease, Animals, Humans, Molecular Biology, Glycosaminoglycans, Sertoli Cells, Chemistry, Leydig Cells, General Medicine, Interstitial Cells of Cajal, Sertoli cell, medicine.disease, Epididymis, Spermatozoa, Cell biology, Lysosomal Storage Diseases, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Disease Progression, Spermatogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e812b0ec90c5b71781bc779b3cb2f8bTest
https://doi.org/10.1007/s11033-020-06055-5Test -
10
المؤلفون: Rita Guerreiro, Kiterie M. E. Faller, Angie Rupp, Jose Bras, Alison Ridyard, Rodrigo Gutierrez-Quintana, Celia Kun-Rodrigues, Tatiana Orme, Heather J. Church, Karen Tylee
المصدر: Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)
Journal of Veterinary Internal Medicineمصطلحات موضوعية: Proband, medicine.medical_specialty, 040301 veterinary sciences, Mucopolysaccharidosis I, Hurler, Standard Article, 030204 cardiovascular system & hematology, medicine.disease_cause, Dermatan sulfate, Scheie, 0403 veterinary science, 03 medical and health sciences, Mucopolysaccharidosis type I, Exon, chemistry.chemical_compound, Endocrinology, Dogs, 0302 clinical medicine, Internal medicine, Genotype, medicine, Lysosomal storage disease, Animals, Dog Diseases, Sequence Deletion, Mutation, lcsh:Veterinary medicine, General Veterinary, business.industry, Homozygote, iduronidase, Exons, 04 agricultural and veterinary sciences, medicine.disease, Standard Articles, lysosomal storage disease, chemistry, lcsh:SF600-1100, SMALL ANIMAL, business, Iduronidase
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce7a23f4302e61f241dcf94594ce389Test
https://doi.org/10.1111/jvim.15868Test