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المؤلفون: Vishal Swaminathan, Prashant Chandrasekaran, Sowmya Jayachandran, Kiran Musunuru, David B. Frank, Apeksha Dave, Tiankun Wang, Brandon White, Heather A. Hartman, Sourav Bose, Rajan Jain, Haiying Li, Felix De Bie, Meghana V. Kashyap, Philip W. Zoltick, William H. Peranteau, Pallavi Menon, Kshitiz Singh, Shiva S. Teerdhala
المساهمون: Faculty of Medicine and Pharmacy, Basic (bio-) Medical Sciences
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communicationsمصطلحات موضوعية: CRISPR-Cas9 genome editing, 0301 basic medicine, Pathology, BLOOD, General Physics and Astronomy, Disease, medicine.disease_cause, TOLERANCE INDUCTION, 0302 clinical medicine, ENZYME-REPLACEMENT THERAPY, Lysosomal storage disease, Medicine, Myocytes, Cardiac, Hurler syndrome, GENE-EXPRESSION, Mutation, Multidisciplinary, Molecular medicine, HURLERS SYNDROME, Myocytes, Cardiac/metabolism, Multidisciplinary Sciences, In utero, Science & Technology - Other Topics, BONE, Lysosomal Storage Diseases/genetics, STEM-CELLS, medicine.medical_specialty, Mutation/genetics, Science, Cardiology, Article, General Biochemistry, Genetics and Molecular Biology, Virus, 03 medical and health sciences, Mucopolysaccharidosis type I, Animals, Humans, PRENATAL-DIAGNOSIS, Science & Technology, business.industry, Mechanism (biology), Hepatocytes/metabolism, General Chemistry, medicine.disease, NERVOUS-SYSTEM, Lysosomal Storage Diseases, Disease Models, Animal, 030104 developmental biology, Hepatocytes, MUCOPOLYSACCHARIDOSIS TYPE-I, business, 030217 neurology & neurosurgery
وصف الملف: Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e6f3e77c2cfd338eb9e98b94b10a46aTest
https://doi.org/10.1038/s41467-021-24443-8Test -
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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 -
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المؤلفون: Jacquelyn J. Bower, Brian C. Gilger, Matthew L. Hirsch, Telmo Llanga, Jacklyn H. Salmon, Liujiang Song
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 18, Iss, Pp 24-32 (2020)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, medicine.medical_treatment, Genetic enhancement, viruses, Inflammation, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Immune system, Gene therapy, Corneal disease, Mucopolysaccharidosis (MPS), Ophthalmology, Genetics, medicine, Adeno-Associated Virus (AAV), lcsh:QH573-671, Adverse effect, Molecular Biology, Saline, Intrastromal injection, biology, business.industry, lcsh:Cytology, eye diseases, lcsh:Genetics, 030104 developmental biology, Tolerability, 030220 oncology & carcinogenesis, biology.protein, Molecular Medicine, sense organs, medicine.symptom, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be62882eaeecf369b513adb1bc218da7Test
http://www.sciencedirect.com/science/article/pii/S2329050120301017Test -
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المصدر: Voprosy Sovremennoj Pediatrii, Vol 17, Iss 6, Pp 473-479 (2019)
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, diagnosis, mucopolysaccharidosis type i, Arthritis, Disease, 030105 genetics & heredity, Pediatrics, RJ1-570, stiffness, 03 medical and health sciences, Mucopolysaccharidosis type I, children, medicine, Metabolic disease, skin and connective tissue diseases, mps, dry arthritis, algorithm, business.industry, Valvular defects, nutritional and metabolic diseases, medicine.disease, Dermatology, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Frequent infections, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21443fcae58275b56d8cb9b183dec1efTest
https://doi.org/10.15690/vsp.v17i6.1978Test -
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المصدر: Pediatric Hematology/Oncology and Immunopathology. 19:83-92
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cyclophosphamide, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Internal medicine, Immunology and Allergy, Medicine, Cumulative incidence, Hurler syndrome, business.industry, Hematology, Enzyme replacement therapy, medicine.disease, Transplantation, surgical procedures, operative, 030104 developmental biology, Graft-versus-host disease, Oncology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::210b0a00fab720cb3f2d6b8ebf575192Test
https://doi.org/10.24287/1726-1708-2020-19-2-83-92Test -
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المؤلفون: Toshiyuki Fukao, Tadao Orii, Nivethitha Arunkumar, Kenji E. Orii, Robert W. Mason, Hironori Kobayashi, Yasuyuki Suzuki, Thomas J. Langan, Seiji Yamaguchi, Molly Stapleton, Rajendra Singh, Francyne Kubaski, Shunji Tomatsu
المصدر: Journal of Human Genetics. 65:557-567
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Newborn screening, business.industry, nutritional and metabolic diseases, Lysosomal storage disorders, 030105 genetics & heredity, medicine.disease, Asymptomatic, Review article, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, Quality of life, Genetics, medicine, In patient, medicine.symptom, skin and connective tissue diseases, Intensive care medicine, business, Hurler syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::deb3ad71f739d825a43b9f0723fa93d2Test
https://doi.org/10.1038/s10038-020-0744-8Test -
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المؤلفون: Masood Ghahvechi, Fatemeh Sayarifard, Soheila Hoseinzadeh Moghadam, Mahdieh-Sadat Mousavi, Reza Rostami, Fatemeh Mozafari, Vahid Ziaee
المصدر: Acta Medica, Vol 62, Iss 4, Pp 161-165 (2020)
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, hand drop, Delayed Diagnosis, Mucopolysaccharidosis I, Inflammatory arthritis, Arthritis, lcsh:Medicine, Lysosomal storage disorders, Timely diagnosis, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, glycosaminoglycan, Humans, Medicine, Musculoskeletal Diseases, Pediatric rheumatology, Child, skin and connective tissue diseases, 030203 arthritis & rheumatology, business.industry, lcsh:R, nutritional and metabolic diseases, General Medicine, Enzyme replacement therapy, medicine.disease, mucopolysaccharidoses, pediatric rheumatology, 030104 developmental biology, Mild symptoms, juvenile idiopathic arthritis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16a6baa262434792ffb0e076fa07ad5Test
https://actamedica.lfhk.cuni.cz/62/4/0161Test/ -
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المؤلفون: Sebahattin Cureoglu, Christiane S. Hampe, Troy C. Lund, Julie B. Eisengart, Linda K. McLoon, Paul J. Orchard, R. Scott McIvor, Jacob Wesley, Lynda E. Polgreen, Patricia A. Schachern
المصدر: Biomolecules, Vol 11, Iss 189, p 189 (2021)
Biomoleculesمصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_treatment, Common disease, Mucopolysaccharidosis I, lcsh:QR1-502, Hematopoietic stem cell transplantation, Disease, Review, Biochemistry, Gastroenterology, lcsh:Microbiology, chemistry.chemical_compound, Iduronidase, 0302 clinical medicine, Medicine, Range of Motion, Articular, Hurler syndrome, Glycosaminoglycans, mucopolysaccharidosis type I, Hematopoietic Stem Cell Transplantation, hematopoietic stem cell transplantations, Heparan sulfate, Enzyme replacement therapy, animal models, experimental therapies, Female, Bone Diseases, enzyme replacement therapy, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heart Diseases, 03 medical and health sciences, Mucopolysaccharidosis type I, Internal medicine, Animals, Humans, Transplantation, Homologous, In patient, Hearing Loss, Molecular Biology, business.industry, nutritional and metabolic diseases, medicine.disease, 030104 developmental biology, chemistry, business, Cognition Disorders, 030217 neurology & neurosurgery, Stem Cell Transplantation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06dfc0026f88e1b728a3f4c4355f8bb2Test
https://www.mdpi.com/2218-273X/11/2/189Test -
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المؤلفون: Bruna Gazzi de Lima Seolin, Angela Maria Vicente Tavares, Esteban Alberto Gonzalez, Luisa Natalia Pimentel Vera, Francyne Kubaski, Edina Poletto, Roberto Giugliani, Ursula da Silveira Matte, Roselena Silvestri Schuh, Lais de Souza Elias, Helder Ferreira Teixeira, Guilherme Baldo
المصدر: Gene Therapy. 27:74-84
مصطلحات موضوعية: Male, 0301 basic medicine, RNA, Untranslated, Bone disease, Mucopolysaccharidosis I, Cardiovascular System, Iduronidase, Mice, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Genetics, medicine, Animals, Clustered Regularly Interspaced Short Palindromic Repeats, Respiratory function, Respiratory system, Molecular Biology, Neuroinflammation, Glycosaminoglycans, Gene Editing, biology, Genetic Therapy, medicine.disease, Phenotype, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Animals, Newborn, 030220 oncology & carcinogenesis, Immunology, biology.protein, Molecular Medicine, Female, Bone Diseases, CRISPR-Cas Systems, Elastin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470d3dc8ce7bb02e5e9d698edba5e07eTest
https://doi.org/10.1038/s41434-019-0113-4Test -
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المؤلفون: Laura D. Attardi, Ciaran M. Lee, Kazuki Sawamoto, Rasmus O. Bak, Laure Aurelian, Rolen M. Quadros, Samantha G. Scharenberg, Matthew H. Porteus, Natalia Gomez-Ospina, Carlos Suárez, Sruthi Mantri, Shaukat Khan, Nitin Raj, Nathalie Mostrel, Shunji Tomatsu, Gang Bao, Channabasavaiah B. Gurumurthy
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications
Gomez-Ospina, N, Scharenberg, S G, Mostrel, N, Bak, R O, Mantri, S, Quadros, R M, Gurumurthy, C B, Lee, C, Bao, G, Suarez, C J, Khan, S, Sawamoto, K, Tomatsu, S, Raj, N, Attardi, L D, Aurelian, L & Porteus, M H 2019, ' Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I ', Nature Communications, vol. 10, no. 1, 4045, pp. 4045 . https://doi.org/10.1038/s41467-019-11962-8Testمصطلحات موضوعية: 0301 basic medicine, CRISPR-Cas9 genome editing, Mucopolysaccharidosis I, CD34, PROTEIN, General Physics and Astronomy, Antigens, CD34, 02 engineering and technology, Mice, SCID, Iduronidase, Mice, Genome editing, Mice, Inbred NOD, lcsh:Science, Gene Editing, Mice, Knockout, Multidisciplinary, Hematopoietic Stem Cell Transplantation, LYSOSOMAL-ENZYME, 021001 nanoscience & nanotechnology, 3. Good health, Cell biology, Haematopoiesis, Phenotype, CRISPR-CAS9, Stem cell, 0210 nano-technology, EFFICIENCY, Receptors, CCR5, Science, Transplantation, Heterologous, Biology, GLOBIN GENE, General Biochemistry, Genetics and Molecular Biology, Article, MURINE, 03 medical and health sciences, Mucopolysaccharidosis type I, Animals, Humans, Progenitor cell, TRANSPLANTATION, Genome, Human, GENE-THERAPY, General Chemistry, Genetic Therapy, Hematopoietic Stem Cells, Transplantation, Targeted gene repair, 030104 developmental biology, NIH 3T3 Cells, LENTIVIRAL VECTOR, lcsh:Q, HURLER-SYNDROME, CRISPR-Cas Systems
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf04a1b4136577e0ad910ae0439c82b9Test
https://doaj.org/article/8f066f14a98c44ea90d2d9109e701772Test
