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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

Relation: https://www.mdpi.com/2409-515X/7/2/23; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/067a1ce7f8054700bd2a9e137d4cc7c0

المؤلفون: Tortorelli, Silvia^Aff1, Eckerman, Jason S, Orsini, Joseph J, Stevens, Colleen, Hart, Jeremy^{Aff3, Aff4}, Hall, Patricia L^{Aff5, Aff6}, Alexander, John J^{Aff5, 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

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

Relation: https://www.mdpi.com/2409-515X/6/3/65; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/a9a794f8f35b439aa7f6b492a7a7a587

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

Relation: https://www.mdpi.com/2409-515X/6/2/42; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/8f74b04e42a645e29c0998e60c0a8d1e

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

Relation: https://www.mdpi.com/2409-515X/6/2/33; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/904bd8ab02a84ef68fc73c50d401dd1e

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93658e7f01026cb6de2674b4f7629447

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ea4dffd7340d4f462e705aa2180a11
http://europepmc.org/articles/PMC8709828

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::272be9bc2a15ddf76200b0bc7c2c69a4
https://pubmed.ncbi.nlm.nih.gov/33073033