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1دورية أكاديمية
المؤلفون: Alia Ahmed, Li Ou, Kyle Rudser, Elsa Shapiro, Julie B. Eisengart, Kelly King, Agnes Chen, Patricia Dickson, Chester B. Whitley
المصدر: Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Anna Luzzi, Agnes Chen, Jonathan Acevedo, Asghar Abbasi, Lynda E. Polgreen, Michelina Iacovino
المصدر: Molecular Genetics and Metabolism. 138:107218
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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المؤلفون: Ashlee R. Stiles, Steven Q. Le, David S. Millington, Haoyue Zhang, Patricia I. Dickson, Sarah P. Young, Patricia McCaw, Agnes Chen, James Beasley
المصدر: Clinica chimica acta; international journal of clinical chemistry. 508
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Mucopolysaccharidosis, Mucopolysaccharidosis I, Clinical Biochemistry, Dermatan Sulfate, Urine, Biochemistry, Dermatan sulfate, 03 medical and health sciences, chemistry.chemical_compound, Mucopolysaccharidosis type I, 0302 clinical medicine, Cerebrospinal fluid, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Chondroitin sulfate, Glycosaminoglycans, Chemistry, Biochemistry (medical), nutritional and metabolic diseases, General Medicine, Heparan sulfate, Enzyme replacement therapy, medicine.disease, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, Heparitin Sulfate, Chromatography, Liquid
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المؤلفون: Lynda E. Polgreen, Julie B. Eisengart, Cara O'Neill, Anna Luzzi, Agnes Chen, Michelina Iacovino
المصدر: Molecular Genetics and Metabolism. 132:S87-S88
مصطلحات موضوعية: Anakinra, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis type III, Interim analysis, Biochemistry, Clinical trial, Endocrinology, Internal medicine, Genetics, medicine, Open label, business, Molecular Biology, medicine.drug
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المؤلفون: Agnes Chen, Steven Q. Le, Igor Nestrasil, Alexander M. Kaizer, Alena Svátková, Haoyue Zhang, Jacqueline Madden, Paul Harmatz, Sarah P. Young, Patricia I. Dickson, Lynda E. Polgreen, Kelly King, Kyle Rudser, Julie B. Eisengart, Amy Wakumoto
المصدر: Mol Genet Metab
Molecular genetics and metabolism, vol 129, iss 2مصطلحات موضوعية: 0301 basic medicine, Male, Lysosomal disease, Mucopolysaccharidoses (MPS), Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Mucopolysaccharidosis I, Cognitive decline, Pilot Projects, 030105 genetics & heredity, Regenerative Medicine, Biochemistry, Iduronidase, 0302 clinical medicine, Endocrinology, Prospective Studies, Child, Injections, Spinal, Genetics & Heredity, Pain Research, Intrathecal enzyme replacement therapy, Enzyme replacement therapy, Middle Aged, Recombinant Proteins, Research Design, 6.1 Pharmaceuticals, Neurological, Female, Adult, medicine.medical_specialty, Randomization, Spinal, Adolescent, Clinical Trials and Supportive Activities, Clinical Sciences, Hurler, Article, Injections, 03 medical and health sciences, Mucopolysaccharidosis type I, Young Adult, Rare Diseases, Clinical Research, Spinal cord compression, Neck spasm, Internal medicine, Genetics, medicine, Humans, Cognitive Dysfunction, Enzyme Replacement Therapy, Adverse effect, Molecular Biology, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, Stem Cell Research, medicine.disease, Brain Disorders, Glycosaminoglycan, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Li Ou, Kyle Rudser, Alia Ahmed, Patricia I. Dickson, Kelly King, Chester B. Whitley, Elsa G Shapiro, Agnes Chen, Julie B. Eisengart
المصدر: Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Longitudinal study, Cross-sectional study, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mucopolysaccharidosis (MPS), Genetics, medicine, Molecular Biology, Neurocognition, lcsh:QH301-705.5, 030304 developmental biology, 0303 health sciences, lcsh:R5-920, L238Q mutation, business.industry, Hurler–Scheie syndrome, medicine.disease, Hurler-Scheie syndrome, Natural history, α-L-iduronidase, lcsh:Biology (General), Mutation (genetic algorithm), Anxiety, medicine.symptom, Iduronidase, business, lcsh:Medicine (General), Neurocognitive, 030217 neurology & neurosurgery, Research Paper
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المؤلفون: Alla Victoroff, Merry Passage, Jillian R. Brown, Moin Vera, Agnes Chen, Steven Q. Le, Patricia I. Dickson, Lynda E. Polgreen, Brett E. Crawford
المصدر: Mol Genet Metab
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Mucopolysaccharidosis I, Urine, 030105 genetics & heredity, Biochemistry, Article, law.invention, Glycosaminoglycan, 03 medical and health sciences, chemistry.chemical_compound, Iduronidase, 0302 clinical medicine, Endocrinology, law, Internal medicine, Genetics, medicine, Humans, Enzyme Replacement Therapy, Molecular Biology, Glycosaminoglycans, biology, business.industry, Clinical Laboratory Techniques, Enzyme replacement therapy, Heparan sulfate, medicine.disease, Enzyme assay, chemistry, biology.protein, Recombinant DNA, Drug Monitoring, business, 030217 neurology & neurosurgery, Biomarkers
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المؤلفون: Laurent Guibaud, Kristin Lindstrom, F. Tran Mau-Them, Alice Masurel, John M. Graham, Yannis Duffourd, Renske Oegema, A. A. Sharkov, Markus Zweier, M. J. van den Boogaard, Thibaud Jouan, Ekaterina R. Lozier, Agnes Chen, M. T. Cho, Sergey Korostelev, Laurence Faivre, Henry J. Lin, F. A. Konovalov, Anaïs Begemann, Patricia I. Dickson, Jennifer Friedman, K.L.I. van Gassen, Boris Keren, Laurence Duplomb, C. Thauvin-Robinet, Moin Vera, Isabelle Marey, Margaret G. Au, Christophe Philippe, Thomas Schmitt-Mechelke, Floor E. Jansen, B. Urteaga, Caroline Nava, Stan F. Nelson, Julian A. Martinez-Agosto, Anita Rauch, Fanny Mochel, Antonio Vitobello
المصدر: Genetics in Medicine, 21(4), 1008. Lippincott Williams and Wilkins
مصطلحات موضوعية: 0301 basic medicine, Adult, Central Nervous System, Male, Heterozygote, Adolescent, data sharing, 030105 genetics & heredity, Biology, developmental epileptic encephalopathies, 03 medical and health sciences, Epilepsy, Young Adult, Neurodevelopmental disorder, Seizures, medicine, Transcriptional regulation, Humans, Genetics(clinical), Child, Gene, Genetics (clinical), Exome sequencing, Genetics, Genetic heterogeneity, Neurodegeneration, High-Throughput Nucleotide Sequencing, Nuclear Proteins, Electroencephalography, Middle Aged, medicine.disease, 030104 developmental biology, Phenotype, Neurodevelopmental Disorders, Mutation, IRF2BPL, Female, Carrier Proteins, exome sequencing, Interferon regulatory factors
وصف الملف: text/plain; image/pdf
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المؤلفون: Jakub Tolar, Lynda E. Polgreen, Agnes Chen, Patricia I. Dickson, Paul J. Orchard, Ashish Gupta, Julie B. Eisengart, Troy C. Lund, Elizabth Braunlin
المصدر: Molecular Genetics and Metabolism. 132:S68
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, Medicine, business, Hurler syndrome, medicine.disease, Molecular Biology, Biochemistry, Neurocognitive
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المؤلفون: Alla Victoroff, Patricia I. Dickson, Paul Harmatz, Anton Mlikotic, Ilkka Kaitila, Merry Passage, Agnes Chen, Jacqueline Madden, Steven Q. Le, David E. Naylor
المساهمون: Medicum, Department of Medical and Clinical Genetics
المصدر: Data in Brief, Vol 5, Iss C, Pp 71-76 (2015)
Data in Briefمصطلحات موضوعية: Pathology, medicine.medical_specialty, education, lcsh:Computer applications to medicine. Medical informatics, Pulmonary function testing, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Cerebrospinal fluid, medicine, Adverse effect, lcsh:Science (General), Data Article, 0303 health sciences, Multidisciplinary, medicine.diagnostic_test, business.industry, 030302 biochemistry & molecular biology, Cervical spinal stenosis, Magnetic resonance imaging, Spinal cord, medicine.disease, 3. Good health, medicine.anatomical_structure, Somatosensory evoked potential, Anesthesia, lcsh:R858-859.7, 3111 Biomedicine, business, 030217 neurology & neurosurgery, lcsh:Q1-390
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