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1
المؤلفون: Lenora Lehwald, Jessica L. Cohen-Pfeffer, Karen Butler, Elizabeth Berry-Kravis, Sam Lu, James W. Wheless, Erika F. Augustine, Raymond Y. Wang, Natalie Cormier, Susan See, Joffre Olaya, Amy Vierhile, Fernanda Leal-Pardinas, Scott Demarest, Amy Yang, Jacqueline Madden, Emily de los Reyes, Dorna Chu
المصدر: Pediatric Neurology. 110:64-70
مصطلحات موضوعية: medicine.medical_specialty, Batten disease, Cerliponase alfa, Disease, Aminopeptidases, Neurosurgical Procedures, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, Health care, Humans, Medicine, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Intensive care medicine, Infusion Pumps, Patient Care Team, Tripeptidyl-Peptidase 1, business.industry, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, United States, Neuronal Ceroid Lipofuscinosis Type 2, Infusions, Intraventricular, Neurology, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Interdisciplinary Communication, Neuronal ceroid lipofuscinosis, Neurology (clinical), Serine Proteases, business, 030217 neurology & neurosurgery
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2
المؤلفون: Jordi Mayneris-Perxachs, Michelle Weech, Julie A. Lovegrove, Katerina Vafeiadou, Jacqueline Madden, Parveen Yaqoob, Hana Altowaijri, Susan Todd, Kim G. Jackson
المصدر: The American Journal of Clinical Nutrition. 107:876-882
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endothelium, Diet therapy, Saturated fat, Medicine (miscellaneous), 030204 cardiovascular system & hematology, Cohort Studies, Endothelial activation, Young Adult, 03 medical and health sciences, Polyunsaturated fat, 0302 clinical medicine, Cell-Derived Microparticles, Internal medicine, medicine, Humans, Single-Blind Method, 030212 general & internal medicine, Endothelial Progenitor Cells, chemistry.chemical_classification, Nutrition and Dietetics, business.industry, Fatty Acids, food and beverages, Middle Aged, medicine.disease, Dietary Fats, Blood pressure, Endocrinology, medicine.anatomical_structure, chemistry, Cardiovascular Diseases, Fatty Acids, Unsaturated, Arterial stiffness, Female, lipids (amino acids, peptides, and proteins), business, Biomarkers, Polyunsaturated fatty acid
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3
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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4
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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5
المؤلفون: Anton Mlikotic, Alla Victoroff, Paul Harmatz, Steven Q. Le, Jacqueline Madden, Merry Passage, Patricia I. Dickson, Ilkka Kaitila, David E. Naylor, Agnes Chen
المصدر: Molecular Genetics and Metabolism. 116:69-74
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis I, Endocrinology, Diabetes and Metabolism, Cervix Uteri, Constriction, Pathologic, Biochemistry, Article, Iduronidase, Young Adult, Mucopolysaccharidosis type I, Myelopathy, Endocrinology, Lumbar, Spinal cord compression, Genetics, medicine, Humans, Spinal canal, Child, Spinal Meninges, Molecular Biology, business.industry, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, 3. Good health, Surgery, medicine.anatomical_structure, Female, business, Spinal Canal
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6
المؤلفون: Jessica Cohen-Pfeffer, Amy Yang, Lenora Lehwald, Dorna Chu, Jacqueline Madden, Sam Lu, James W. Wheless, Raymond Y. Wang, Susan See, Karen Butler, Natalie Cormier, Joffre Olaya, Elizabeth Berry-Kravis, Erika F. Augustine, Scott Demarest, Emily de los Reyes, Amy Vierhile, Fernanda Leal-Pardinas
المصدر: Molecular Genetics and Metabolism. 129:S158
مصطلحات موضوعية: Clinical Practice, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, Disease, Cerliponase alfa, Intensive care medicine, business, Molecular Biology, Biochemistry
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7
المؤلفون: Jacqueline Boultwood, Ling Mei Wang, Jacqueline Madden, Susan J. Kelly, James S. Wainscoat, David Oscier, Katrina Rack, Veronica J. Buckle, Alan Y. Sakaguchi
مصطلحات موضوعية: Adult, Male, Myeloid, Receptor, Macrophage Colony-Stimulating Factor, Biology, Gene dosage, Gene product, Bone Marrow, Reference Values, Homologous chromosome, medicine, Humans, Alleles, Aged, Aged, 80 and over, Multidisciplinary, Nucleic Acid Hybridization, Myeloid leukemia, Chromosome, Karyotype, Middle Aged, medicine.disease, Chromosome Banding, Leukemia, medicine.anatomical_structure, Myelodysplastic Syndromes, Cancer research, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, Research Article
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8
المؤلفون: Ellen B. Fung, Paul Harmatz, Jo Ann Johnson, Jacqueline Madden, Tiffany Y. Kim
المصدر: Journal of Pediatric Rehabilitation Medicine. 3:13-23
مصطلحات موضوعية: Bone mineral, medicine.medical_specialty, Bone density, medicine.diagnostic_test, business.industry, Mucopolysaccharidosis, Rehabilitation, Urology, Physical Therapy, Sports Therapy and Rehabilitation, Enzyme replacement therapy, medicine.disease, Short stature, Article, Surgery, Pediatrics, Perinatology and Child Health, Vitamin D and neurology, medicine, In patient, medicine.symptom, Quantitative computed tomography, business
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9
المؤلفون: Bo E. Hedlund, Elliott Vichinsky, Paul R. Dragsten, Robert W. Grady, Patricia J. Giardina, Michael Jeng, Jacqueline Madden, Paul Harmatz, Becky Miller, Hanson Gregory J
المصدر: British Journal of Haematology. 138:374-381
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Iron, Urinary system, Thalassemia, Deferoxamine, Pharmacology, Iron Chelating Agents, Excretion, chemistry.chemical_compound, Internal medicine, medicine, Humans, Prospective Studies, Infusions, Intravenous, Adverse effect, Aged, Aged, 80 and over, Hematology, Mesylate, business.industry, beta-Thalassemia, Middle Aged, medicine.disease, Chelation Therapy, Surgery, Clinical trial, chemistry, Female, business, medicine.drug
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10
المؤلفون: Qing Jiang, David W. Killilea, Mark Hudes, Ellen B. Fung, John B. Porter, Patricia Evans, Paul Harmatz, Jacqueline Madden, Patrick B. Walter, Elliott Vichinsky
المصدر: British Journal of Haematology. 135:254-263
مصطلحات موضوعية: Adult, Male, Hemolytic anemia, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Iron Overload, Adolescent, Anemia, Iron, Anemia, Sickle Cell, medicine.disease_cause, Article, Antioxidants, Malondialdehyde, hemic and lymphatic diseases, Internal medicine, Humans, Medicine, Child, Inflammation, chemistry.chemical_classification, gamma-Tocopherol, biology, business.industry, Interleukins, beta-Thalassemia, C-reactive protein, Transfusion Reaction, Beta thalassemia, Hematology, medicine.disease, Sickle cell anemia, Oxidative Stress, C-Reactive Protein, Endocrinology, Hemoglobinopathy, Liver, chemistry, Transferrin, Ferritins, Immunology, biology.protein, Female, business, Biomarkers, Oxidative stress
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11Academic Journal
المؤلفون: Fung, Ellen, Kim, Tiffany, Johnson, Jo Ann, Jacqueline, Madden, Erin, Stege, Paul, Harmatz
المصدر: Molecular Genetics and Metabolism ; volume 96, issue 2, page S24 ; ISSN 1096-7192
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12
المؤلفون: Jacqueline Boultwood, Veronica J. Buckle, David Oscier, Jacqueline Madden, Katrina Rack, Gail Abrahamson, Susan J. Kelly, J. S. Wainscoat
المصدر: British Journal of Haematology. 79:550-555
مصطلحات موضوعية: X Chromosome, Myeloid, Genetic Linkage, T-Lymphocytes, Biology, Monosomy, medicine, Humans, Progenitor cell, Gene, Chromosome 7 (human), Genetics, Phosphoglycerate kinase, Anemia, Refractory, Chromosome, Hematology, Methylation, Molecular biology, Clone Cells, Phosphoglycerate Kinase, medicine.anatomical_structure, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, Restriction fragment length polymorphism, DNA Probes, Chromosomes, Human, Pair 7, Polymorphism, Restriction Fragment Length, Granulocytes
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13Academic Journal
المؤلفون: Anthony E Redington, William R Roche, Jacqueline Madden, Anthony Frew, Ratko Djukanovic, Stephen T Holgate, Peter H Howarth
مصطلحات موضوعية: Uncategorised value
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14
المؤلفون: Annie Lui, Elliott Vichinsky, Patricia Evans, Patrick B. Walter, Ellen B. Fung, John B. Porter, Paul Harmatz, David W. Killilea, Jacqueline Madden, Bruce N. Ames
المصدر: Blood. 108:1233-1233
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, biology, business.industry, Thalassemia, medicine.medical_treatment, Immunology, C-reactive protein, Inflammation, Cell Biology, Hematology, medicine.disease, Biochemistry, Proinflammatory cytokine, Hemoglobinopathy, Cytokine, hemic and lymphatic diseases, biology.protein, Medicine, Leukocyte proliferation, Leukocytosis, medicine.symptom, business
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15
المؤلفون: David W. Killilea, Qing Jiang, Patricia Evans, Bruce N. Ames, Elliott Vichinsky, John B. Porter, Patrick B. Walter, Jacqueline Madden, Ellen B. Fung, Ellen Butensky, Paul Harmatz
المصدر: Blood. 104:3608-3608
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Immunology, medicine.disease_cause, Biochemistry, Lipid peroxidation, chemistry.chemical_compound, Internal medicine, medicine, Tocopherol, chemistry.chemical_classification, biology, business.industry, Vitamin E, C-reactive protein, Cell Biology, Hematology, Malondialdehyde, Surgery, Ferritin, Endocrinology, chemistry, Transferrin, biology.protein, business, Oxidative stress
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16
المؤلفون: Veronica J. Buckle, Jacqueline Boultwood, Jacqueline Madden, James S. Wainscoat, Susan J. Kelly, David Oscier, Katrina Rack
المصدر: British Journal of Haematology. 76:310-311
مصطلحات موضوعية: Adult, 5q-syndrome, Pathology, medicine.medical_specialty, Homozygote, Refractory anemia, Hematology, Biology, Pregnancy Complications, Bone Marrow, Pregnancy, Myelodysplastic Syndromes, medicine, Chromosomes, Human, Pair 5, Humans, Female, Chromosome Deletion, Premalignant lesion, Alleles