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1دورية أكاديمية
المؤلفون: Harmatz, Paul R, Mengel, Eugen, Geberhiwot, Tarekegn, Muschol, Nicole, Hendriksz, Christian J, Burton, Barbara K, Jameson, Elisabeth, Berger, Kenneth I, Jester, Andrea, Treadwell, Marsha, Sisic, Zlatko, Decker, Celeste
المصدر: American Journal of Medical Genetics Part A. 173(2)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, Patient Safety, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Activities of Daily Living, Adolescent, Adult, Biomarkers, Child, Chondroitinsulfatases, Enzyme Replacement Therapy, Exercise, Female, Humans, Keratan Sulfate, Male, Mucopolysaccharidosis IV, Quality of Life, Respiratory Function Tests, Self Report, Treatment Outcome, Walking, Young Adult, mucopolysaccharidosis IV, safety, physical endurance, GALNS protein, human [supplementary concept], enzyme replacement therapy, mobility limitation, GALNS protein, human [supplementary concept], Genetics, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5wg0h60b
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2دورية أكاديمية
المؤلفون: Burton, Barbara K, Berger, Kenneth I, Lewis, Gregory D, Tarnopolsky, Mark, Treadwell, Marsha, Mitchell, John J, Muschol, Nicole, Jones, Simon A, Sutton, V Reid, Pastores, Gregory M, Lau, Heather, Sparkes, Rebecca, Genter, Fred, Shaywitz, Adam J, Harmatz, Paul
المصدر: American Journal of Medical Genetics Part A. 167(10)
مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Pain Research, Chronic Pain, Cardiovascular, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.7 Physical, 6.1 Pharmaceuticals, Musculoskeletal, Adolescent, Adult, Child, Chondroitinsulfatases, Double-Blind Method, Drug Administration Schedule, Enzyme Replacement Therapy, Exercise Test, Female, Heart Function Tests, Humans, Keratan Sulfate, Male, Mucopolysaccharidosis IV, Muscle Strength, Patient Safety, Pilot Projects, Recombinant Proteins, Respiratory Function Tests, Treatment Outcome, Walking, mucopolysaccharidosis IV, cardiopulmonary exercise test, safety, respiratory function tests, muscle strength, physical endurance, GALNS protein, human [supplementary concept], enzyme replacement therapy, Genetics, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/119351pp
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المؤلفون: Nicole Muschol, Elisabeth Jameson, Marsha Treadwell, Eugen Mengel, Zlatko Sisic, Celeste Decker, Christian J. Hendriksz, Tarekegn Geberhiwot, Andrea Jester, Barbara K. Burton, Paul Harmatz, Kenneth I. Berger
المصدر: American journal of medical genetics. Part A, vol 173, iss 2
American Journal of Medical Genetics. Part aمصطلحات موضوعية: 0301 basic medicine, Male, Walking, chemistry.chemical_compound, Grip strength, GALNS protein, 0302 clinical medicine, Elosulfase alfa, Quality of life, Activities of Daily Living, Respiratory function, Functional ability, Child, Genetics (clinical), education.field_of_study, Mucopolysaccharidosis IV, Chondroitinsulfatases, 3. Good health, Respiratory Function Tests, Treatment Outcome, Tolerability, 6.1 Pharmaceuticals, Original Article, Female, Patient Safety, physical endurance, GALNS protein, human [supplementary concept], Adult, safety, medicine.medical_specialty, Adolescent, Clinical Trials and Supportive Activities, Population, Clinical Sciences, 03 medical and health sciences, Young Adult, mobility limitation, Clinical Research, Internal medicine, medicine, Genetics, Humans, Enzyme Replacement Therapy, Adverse effect, education, human [supplementary concept], Exercise, business.industry, Evaluation of treatments and therapeutic interventions, Original Articles, 030104 developmental biology, chemistry, Keratan Sulfate, Quality of Life, Self Report, business, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dae1bf1c1b7c10b98172f52f3d7ac01
https://escholarship.org/uc/item/5wg0h60b -
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المؤلفون: Juan David Patiño, Carlos J. Alméciga-Díaz, Alexander Rodríguez-López, Oscar F. Sánchez, Yahir Andres Bonilla, Luisa Pimentel, Angela J. Espejo-Mojica, Janneth González-Santos, Andrés Dario Tolosa-Díaz
المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosarioمصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Formylglycine-generating enzymes, Unclassified drug, Enzyme activation, IDS protein, medicine.disease_cause, law.invention, Serine, GALNS protein, Models, law, Catalytic Domain, Enzyme activity, Structural motif, Protein motif, Enzyme active site, Priority journal, Aslb, N-acetylgalactosamine-6-sulfate sulfatase, Iduronate 2 sulfatase, Sulfatase, Escherichia coli Proteins, General Medicine, Chondroitinsulfatases, Recombinant Proteins, Molecular Docking Simulation, Chemistry, Biochemistry, Molecular docking, Recombinant DNA, Sulfatases, Human, Protein Binding, Recombinant protein, N acetylgalactosamine 6 sulfatase, Anaerobic sulfatase maturase aslb, Molecular dynamics, Biology, Molecular Dynamics Simulation, Escherichia coli protein, Article, Molecular model, Amino acid sequence, 03 medical and health sciences, Genetics, medicine, Escherichia coli, Humans, Cysteine, Glycoproteins, Molecular, Iduronate-2-sulfatase, Nonhuman, Molecular biology, N-Acetylgalactosamine-4-Sulfatase, N acetylgalactosamine 4 sulfatase, Enzyme Activation, Recombinant enzyme, Binding affinity, Metabolism, 030104 developmental biology, Iduronate-2-sulfate sulfatase, Protein protein interaction, Enzymology, Protein expression, Glycoprotein, Controlled study
وصف الملف: application/pdf
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المؤلفون: Martin G. Bialer, Paul Harmatz, Hui Wang, Ke Yang, Ken Martin, Simon Jones, Rossella Parini, Adam J. Shaywitz
المصدر: Pediatric research, vol 78, iss 6
Pediatric Research
Jones, S A, Bialer, M, Parini, R, Martin, K, Wang, H, Yang, K, Shaywitz, A J & Harmatz, P 2015, ' Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y ', PEDIATRIC RESEARCH, vol. 78, no. 6, pp. 717-722 . https://doi.org/10.1038/pr.2015.169مصطلحات موضوعية: Male, Pediatrics, Time Factors, Body height, Mucopolysaccharidosis, chemistry.chemical_compound, 0302 clinical medicine, Child Development, Elosulfase alfa, Infusions, Intravenous, Child, 0303 health sciences, steroid, 030305 genetics & heredity, Age Factors, virus diseases, Mucopolysaccharidosis IV, Enzyme replacement therapy, biological marker, Chondroitinsulfatases, Recombinant Proteins, 3. Good health, Europe, Treatment Outcome, Child, Preschool, Public Health and Health Services, Female, Intravenous, medicine.medical_specialty, Infusions, Morquio A syndrome, Drug Administration Schedule, Paediatrics and Reproductive Medicine, 03 medical and health sciences, stomatognathic system, GALNS protein, human, Early Medical Intervention, medicine, n acetylgalactosamine 4 sulfatase, Humans, Enzyme Replacement Therapy, Clinical Investigation, Preschool, business.industry, Infant, medicine.disease, digestive system diseases, N-Acetylgalactosamine-4-Sulfatase, Body Height, United Kingdom, Clinical trial, elosulfase alfa, chemistry, antihistaminic agent, Keratan Sulfate, Pediatrics, Perinatology and Child Health, sense organs, business, recombinant protein, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96854605fc4037a81dab50c27520159f
https://escholarship.org/uc/item/1wh573m2 -
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المؤلفون: Mary C. Theroux, Joel Charrow, Tord D. Alden, Bianca Link, Renzo Manara, Catherine Ann R Breathnach, Arnaka C Offiah, William G. Mackenzie, Christian J. Hendriksz, Martha Solano, Geoffrey P Frawley
المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosarioمصطلحات موضوعية: Practice guideline, medicine.medical_specialty, Pediatrics, Morquio syndrome, Ligamentous laxity, Consensus, Medical assessment, Mucopolysaccharidosis, Endocrinology, Diabetes and Metabolism, endotracheal, Review, Spinal cord compression, Biochemistry, Mps iva, Perioperative Care, Myelopathy, Endocrinology, Galns protein, medicine, Genetics, Humans, Clinical evaluation, Medical specialist, Personal experience, human, Patient assessment, Molecular Biology, Patient monitoring, Subluxation, Perioperative period, business.industry, Odontoid Hypoplasia, Mucopolysaccharidosis iv, Mucopolysaccharidosis IV, Consensus development, medicine.disease, Atlanto axial fusion, Surgery, Comparative study, Anesthesia induction, Intubation, business, Complication, Spinal Cord Compression, Perioperative care
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6314f916751a0e99f50701d691cb57a
http://hdl.handle.net/11386/4566900 -
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المؤلفون: Barbara K, Burton, Kenneth I, Berger, Gregory D, Lewis, Mark, Tarnopolsky, Marsha, Treadwell, John J, Mitchell, Nicole, Muschol, Simon A, Jones, V Reid, Sutton, Gregory M, Pastores, Heather, Lau, Rebecca, Sparkes, Fred, Genter, Adam J, Shaywitz, Paul, Harmatz
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Adult, Male, safety, Adolescent, Pilot Projects, Walking, Drug Administration Schedule, GALNS protein, Double-Blind Method, Humans, Enzyme Replacement Therapy, Muscle Strength, Child, human [supplementary concept], Research Articles, respiratory function tests, Mucopolysaccharidosis IV, Chondroitinsulfatases, Recombinant Proteins, Treatment Outcome, Keratan Sulfate, Heart Function Tests, Exercise Test, Female, Patient Safety, physical endurance, cardiopulmonary exercise test, Research Article
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8دورية أكاديمية
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