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1دورية أكاديمية
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2دورية أكاديمية
المؤلفون: Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo
المصدر: International Journal of Neonatal Screening, Vol 7, Iss 2, p 23 (2021)
مصطلحات موضوعية: bioinformatics, Collaborative Laboratory Integrated Reports (CLIR), dual scatter plot, congenital hypothyroidism, covariate-adjusted reference intervals, false positives, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Tortorelli, SilviaAff1, Eckerman, Jason S, Orsini, Joseph J, Stevens, Colleen, Hart, JeremyAff3, Aff4, Hall, Patricia LAff5, Aff6, Alexander, John JAff5, Aff6, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(8):840-846
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4دورية أكاديمية
المؤلفون: Monica M. Martin, Ryan Wilson, Michele Caggana, Joseph J. Orsini
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 3, p 65 (2020)
مصطلحات موضوعية: newborn screening, Krabbe, Pompe, post-analytical tools, Collaborative Laboratory Integrated Reports, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 42 (2020)
مصطلحات موضوعية: newborn screening, post-analytical evaluation, Collaborative Laboratory Integrated Reports (CLIR), tandem mass spectrometry, expanded screening, dried blood spots (DBS), Pediatrics, RJ1-570
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 33 (2020)
مصطلحات موضوعية: Collaborative Laboratory Integrated Reports (CLIR), false positive rate, newborn screening (NBS), second tier test (2TT), Pediatrics, RJ1-570
وصف الملف: electronic resource
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7
المؤلفون: Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina
المساهمون: Clinical Genetics, Pediatrics
المصدر: Molecular Genetics and Metabolism Reports, 33:100929. Elsevier
مصطلحات موضوعية: Newborn screening, electromyography, digital microfluidics, variants of uncertain significance, cross-reactive immunological material, Gross Motor Function Measure, DBS, Medical Research Council Scale, Endocrinology, EMG, NBS, IOPD, magnetic resonance imaging, GAA, immunotolerance induction, LVMI, left ventricular max index, ejection fraction, Acid α-glucosidase, CLIR, Collaborative Laboratory Integrated Reports, CRIM, cross-reactive immunological material, DBS, dried blood spot, DMF, digital microfluidics, ECG, electrocardiogram, EF, ejection fraction, EMG, electromyography, ERT, enzyme replacement therapy, Enzyme replacement therapy, GAA, acid α-glucosidase, GMFM-88, Gross Motor Function Measure, Glc4, glucose tetrasaccharide, IOPD, infantile-onset Pompe disease, ITI, immunotolerance induction, LOPD, late-onset Pompe disease, LVMI, left ventricular max index, MFM-20, motor function measurement, MRC, Medical Research Council Scale, MRI, magnetic resonance imaging, MS/MS, tandem mass spectrometry, NBS, newborn screening, PBMC, peripheral blood mononuclear cells, PD, Pompe disease, PPV, positive predictive value, Pompe disease, RUSP, Recommended Uniform Screening Panel, Tandem mass-spectrometry, Urinary tetrasaccharide, VUS, variants of uncertain significance, nv, normal values, rhGAA, recombinant human GAA, CLIR, peripheral blood mononuclear cells, rhGAA, CRIM, dried blood spot, MRC, LOPD, GMFM-88, PD, ERT, MRI, motor function measurement, PPV, Recommended Uniform Screening Panel, electrocardiogram, Glc4, late-onset Pompe disease, DMF, RUSP, nv, tandem mass spectrometry, Genetics, MS/MS, MFM-20, normal values, Molecular Biology, glucose tetrasaccharide, ECG, Collaborative Laboratory Integrated Reports, PBMC, EF, VUS, ITI, positive predictive value, infantile-onset Pompe disease, recombinant human GAA
وصف الملف: application/pdf
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8
المؤلفون: Christopher Nixon, Amy C Smith, Anna Fornari, Andrew P. Norgan, Sainan Wei, Lars Mørkrid, Norma P. Tavakoli, Vaneet Arora, Bobby J Miller, Joseph J. Orsini, Rolf Zetterström, Rolf D. Pettersen, Gregg Marquardt, Piero Rinaldo, Robert J. Currier, Patricia L. Hall, Michele Caggana, Amy L Piazza, Hao Tang, Stephanie D Stoway, Neil R Schubauer, Henrik Åhlman, Alexander D. Rowe, Arthur Hagar
المصدر: International Journal of Neonatal Screening
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 23, p 23 (2021)مصطلحات موضوعية: 0301 basic medicine, Multivariate statistics, endocrine system, endocrine system diseases, Computer science, dual scatter plot, thyroid-stimulating hormone, 030209 endocrinology & metabolism, Pediatrics, Article, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Covariate, Statistics, False positive paradox, medicine, false positives, thyroxine, Polynomial regression, Newborn screening, newborn screening, covariate-adjusted reference intervals, Obstetrics and Gynecology, congenital hypothyroidism, bioinformatics, Collaborative Laboratory Integrated Reports (CLIR), single condition tool, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, Specimen collection, Sequential analysis, Pediatrics, Perinatology and Child Health, hormones, hormone substitutes, and hormone antagonists
وصف الملف: application/pdf
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9
المؤلفون: S. Ashrafzadeh-Kian, M.R. Campbell, J.C. Jara Aguirre, J. Walsh, A. Kumanovics, G. Jenkinson, P. Rinaldo, M.R. Snyder, A. Algeciras-Schimnich
المصدر: Cytokine
مصطلحات موضوعية: Male, LLOQ, Lower Limit of Quantification, AMR, Analytic Measuring Range, VEGF, Vascular endothelial growth factor, G-CSF, Granulocyte colony-stimulating factor, MIP-1α, Macrophage inflammatory protein 1α, Biochemistry, Severity of Illness Index, MCP-1, Monocyte chemoattractant protein-1, Immunology and Allergy, LIF, Leukemia inhibitory factor, IL, Interleukin, vWF-A2, von Willebrand factor A2 domain, Hospital Mortality, IM, Immune Mediator, sIL-6Rα, Interleukin 6 receptor α (soluble), Immune mediator, COVID-19, Coronavirus disease 2019, Hematology, Middle Aged, Prognosis, EN-RAGE/S100A12, Extracellular newly identified receptor for advanced glycation end products binding protein, Hospitalization, C-Reactive Protein, Treatment Outcome, Multiplex assay, Area Under Curve, IL-6, Interleukin 6, Cytokines, Female, Receptors, Chemokine, Chemokines, IL-18, Interleukin 18, Adult, PDGF, Platelet-derived growth factor, CLIR, Collaborative Laboratory Integrated Reports, Immunology, Article, Fibrin Fibrinogen Degradation Products, IFNα, IFNβ, IFNγ, Interferon α, β, γ, Humans, Receptors, Cytokine, Molecular Biology, IL-6, IL-10, Interleukin 10, Interleukin-6, SARS-CoV-2, COVID-19, IP-10, CXCL-10, Interferon gamma-induced protein 10, Length of Stay, IL-1β, Interleukin 1 beta, Respiration, Artificial, SARS-CoV-2, Severe Acute Respiratory Syndrome Coronavirus 2, ROC Curve, TNF, TNF-α, Tumor necrosis factor-alpha, Ferritins, GM-CSF, Granulocyte-macrophage colony-stimulating factor, sIL-2Rα, Interleukin 2 receptor α (soluble), Biomarkers, FGF, Fibroblast growth factor
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10
المؤلفون: Carolina Backman-Johansson, Rolf Zetterström, Martin Engvall, Anna Wedell, Henrik Åhlman, Yvonne Nordqvist, Annika Ohlsson, Ulrika von Döbeln, Lene Sörensen, Karin Naess
المصدر: International Journal of Neonatal Screening
Volume 6
Issue 2
International Journal of Neonatal Screening, Vol 6, Iss 42, p 42 (2020)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, Article, post-analytical evaluation, 03 medical and health sciences, Immunology and Microbiology (miscellaneous), tandem mass spectrometry, Medicine, dried blood spots (DBS), Newborn screening, biology, business.industry, newborn screening, Incidence (epidemiology), positive predictive value (PPV), lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, Stork, Collaborative Laboratory Integrated Reports (CLIR), biology.organism_classification, Predictive value, 030104 developmental biology, Methylmalonic aciduria, Pediatrics, Perinatology and Child Health, business, expanded screening
وصف الملف: application/pdf