نتائج البحث - "Mucopolysaccharidosis type I"

1

Mucopolysaccharidosis Type I–Associated Corneal Disease: A Clinicopathologic Study

المؤلفون: Anna M. Stagner, Vamsee K Neerukonda, Imani M. Williams, Roberto Pineda

المصدر: American Journal of Ophthalmology. 231:39-47

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3e6b946bc8ace79961937a7254379898Test
https://doi.org/10.1016/j.ajo.2021.05.014Test

2

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

المؤلفون: Kenji E. Orii, Kabir Jalal, Toshiyuki Fukao, Seiji Yamaguchi, Molly Stapleton, Hironori Kobayashi, Amy Barczykowski, Randy L. Carter, Shunji Tomatsu, Thomas J. Langan

المصدر: JIMD Reports, Vol 52, Iss 1, Pp 35-42 (2020)
JIMD Reports

مصطلحات موضوعية: Research Report, medicine.medical_specialty, heparan, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, sulfate, Biochemistry, Genetics and Molecular Biology (miscellaneous), Gastroenterology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Glycosaminoglycan, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Internal medicine, alpha‐L‐iduronidase, Internal Medicine, medicine, Dried blood, 030304 developmental biology, 0303 health sciences, Newborn screening, lcsh:RC648-665, business.industry, newborn screening, mucopolysaccharidosis type I, biomarkers, Research Reports, medicine.disease, Predictive value, 3. Good health, lcsh:Genetics, glycosaminoglycans, Krabbe disease, business, Iduronidase, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200bb3f079b29b27c813753a5cced040Test
https://doaj.org/article/cc419e1a9be84711aacdc66fabfc4e7dTest

3

The hematopoietic stem cell transplantation in children with Hurler syndrome

المؤلفون: S. Ya. Volgina, D. I. Sadykova, E. A. Nikolaeva, E. I. Palamarchuk

المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 5, Pp 159-164 (2019)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27a934429b93c0c41c19a186b750a122Test
https://www.ped-perinatology.ru/jour/article/view/985Test

4

The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I

المؤلفون: A. Broomfield, Simon Jones, Stuart Wilkinson, N.B. Wright, J. Sims, P. Hensman, Arunabha Ghosh, A. Oldham, Karen Tylee, Karolina M. Stepien, Rob Wynn, Jean Mercer, N Prathivadi Bhayankaram

المصدر: Molecular Genetics and Metabolism. 132:94-99

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis I, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Biochemistry, Pulmonary function testing, Young Adult, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Endocrinology, DLCO, Diffusing capacity, Genetics, Humans, Medicine, Enzyme Replacement Therapy, Restrictive lung disease, Lung Diseases, Obstructive, Age of Onset, Child, Molecular Biology, Aged, Aged, 80 and over, Carbon Monoxide, business.industry, Hematopoietic Stem Cell Transplantation, Infant, nutritional and metabolic diseases, Enzyme replacement therapy, Middle Aged, medicine.disease, Airway Obstruction, Transplantation, Child, Preschool, Cohort, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91356cc50d618003aacca399b775bedcTest
https://doi.org/10.1016/j.ymgme.2020.07.004Test

5

In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease

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 Communications

مصطلحات 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

6

Morphological damage in Sertoli, myoid and interstitial cells in a mouse model of mucopolysaccharidosis type I (MPS I)

المؤلفون: Vânia D'Almeida, Gustavo Monteiro Viana, Odair Aguiar, Cinthia Castro do Nascimento

المصدر: Molecular Biology Reports. 48:363-370

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e812b0ec90c5b71781bc779b3cb2f8bTest
https://doi.org/10.1007/s11033-020-06055-5Test

7

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

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 Childhood

مصطلحات 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

8

miR-143 Regulates Lysosomal Enzyme Transport across the Blood-Brain Barrier and Transforms CNS Treatment for Mucopolysaccharidosis Type I

المؤلفون: Kevin P. Rose, Dao Pan, Xiaohong Wang, Mei Dai, Yi Lin, Jingfen Han, Mei Xin

المصدر: Mol Ther

مصطلحات موضوعية: Central Nervous System, Mucopolysaccharidosis I, Genetic enhancement, Blood–brain barrier, Mice, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Downregulation and upregulation, Transduction, Genetic, Drug Discovery, Genetics, medicine, Animals, Humans, Receptor, Hurler syndrome, Molecular Biology, 030304 developmental biology, Pharmacology, 0303 health sciences, business.industry, Gene Transfer Techniques, Endothelial Cells, Genetic Therapy, Enzyme replacement therapy, Hematopoietic Stem Cells, medicine.disease, Disease Models, Animal, MicroRNAs, Protein Transport, Haematopoiesis, medicine.anatomical_structure, Gene Expression Regulation, Blood-Brain Barrier, 030220 oncology & carcinogenesis, Cancer research, Molecular Medicine, RNA Interference, Original Article, Lysosomes, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acfac345fcb2fe7314f34b9821bf3e92Test
https://doi.org/10.1016/j.ymthe.2020.06.011Test

9

Ocular Tolerability and Immune Response to Corneal Intrastromal AAV-IDUA Gene Therapy in New Zealand White Rabbits

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)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be62882eaeecf369b513adb1bc218da7Test
http://www.sciencedirect.com/science/article/pii/S2329050120301017Test

10

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

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 Medicine

مصطلحات 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

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