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1دورية 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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2
المؤلفون: An I. Jonckheere, Sandra D. K. Kingma
المصدر: Journal of inherited metabolic disease
مصطلحات موضوعية: Oncology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Bone disease, Mucopolysaccharidosis I, Disease, Severity of Illness Index, Mucopolysaccharidosis type I, Neonatal Screening, Internal medicine, Genetics, medicine, Humans, Enzyme Replacement Therapy, skin and connective tissue diseases, Genetics (clinical), Newborn screening, business.industry, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Disease Management, nutritional and metabolic diseases, Genetic Therapy, Enzyme replacement therapy, medicine.disease, Pathophysiology, Transplantation, Early Diagnosis, Phenotype, Intercellular Signaling Peptides and Proteins, Human medicine, Bone Diseases, Stem cell, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80cb4d2eb2eb801156cf0d726c2abba8Test
https://doi.org/10.1002/jimd.12431Test -
3دورية أكاديمية
المؤلفون: Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Néji Tebib, Sandrine Laradi
مصطلحات موضوعية: Ubiquitin-Proteasome Proteolytic Pathway, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Mucopolysaccharidoses, Hurler syndrome, Splice site mutation, Mutation, Pedigree chart, splice, Gene, Pathology, Mucopolysaccharidosis type I, Gene mutation, Mucopolysaccharidosis I, Genetics, Biology, RNA splicing, Disease, Enzyme replacement therapy, RNA
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4
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 -
5
المؤلفون: Mark Dant, Joseph Muenzer, Hillary A. Keenan, Nicole Muschol, Roberto Giugliani
المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Archives of Disease in Childhoodمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Delayed Diagnosis, Mucopolysaccharidosis I, medicine.medical_treatment, Time to treatment, Hematopoietic stem cell transplantation, Disease, Severity of Illness Index, Time-to-Treatment, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, multidisciplinary team-care, metabolic, therapeutics, medicine, Humans, Enzyme Replacement Therapy, In patient, Registries, Child, Original Research, Retrospective Studies, 0303 health sciences, Tempo para o tratamento, business.industry, 030305 genetics & heredity, Hematopoietic Stem Cell Transplantation, nutritional and metabolic diseases, Infant, Enzyme replacement therapy, Mucopolissacaridose I, monitoring, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Observational study, business, 030217 neurology & neurosurgery, Time to diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa875d1fe4db217830fe4592780a2e08Test
https://doi.org/10.1136/archdischild-2020-319040Test -
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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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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: Sarah C. Hurt, David T. Curiel, Patricia I. Dickson
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Genetic enhancement, Mucopolysaccharidosis I, Genetic Vectors, Gene Expression, Disease, Bioinformatics, Article, Viral vector, Insertional mutagenesis, Mucopolysaccharidosis type I, Iduronidase, Genome editing, Genetics, CRISPR, Medicine, Animals, Humans, Genetics (clinical), Glycosaminoglycans, Gene Editing, business.industry, Cas9, Genetic Therapy, Dependovirus, Disease Models, Animal, CRISPR-Cas Systems, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c86ab25d4c8f780c51ae98168404884dTest
https://pubmed.ncbi.nlm.nih.gov/34189746Test -
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المؤلفون: Allan M. Lund, A. Broomfield, Rossella Parini, Maja Di Rocco, Waseem Mahmoud Fathalla, Anna Tylki-Szymańska, Maurizio Scarpa, Christina Lampe, Nathalie Guffon, Maureen Cleary, Linda De Meirleir, Jiří Zeman
المساهمون: Pediatrics, Clinical sciences, Neurogenetics, Reproduction and Genetics
المصدر: Acta Paediatrica (Oslo, Norway : 1992)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Haematopoietic stem cell transplant, Lysosomal storage disorder, Mucopolysaccharidosis I, Lysosomal storage disorders, Review Article, Disease, 03 medical and health sciences, Mucopolysaccharidosis type I, Neonatal Screening, 0302 clinical medicine, medicine, Humans, Laronidase, Pediatrics, Perinatology, and Child Health, Intensive care medicine, Review Articles, Disease burden, Newborn screening, business.industry, Infant, Newborn, General Medicine, Enzyme replacement therapy, International working group, 030104 developmental biology, Clinical diagnosis, Pediatrics, Perinatology and Child Health, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::075be263270ad9c00f75546e212fdc72Test
https://doi.org/10.1111/apa.14587Test -
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المؤلفون: Elizabeth G. Ames, Rachel Fisher, Mary Kleyn, Ayesha Ahmad
المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 72, p 72 (2020)
Volume 6
Issue 3مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Survey result, Lysosomal storage disorders, Lysosomal storage disease, Disease, 030105 genetics & heredity, Article, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, NBS, Immunology and Microbiology (miscellaneous), Screening method, IOPD, Medicine, Newborn screening, business.industry, Public health, lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, medicine.disease, Hurler-Scheie syndrome, MPSI, Family medicine, LOPD, Pediatrics, Perinatology and Child Health, Hurler syndrome, business, 030217 neurology & neurosurgery, early diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8136379737100942a462fb88e987c693Test
http://europepmc.org/articles/PMC7569971Test
