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1دورية أكاديمية
المؤلفون: M. Christine Dorley, George J. Dizikes, Charles Austin Pickens, Carla Cuthbert, Khaja Basheeruddin, Fizza Gulamali-Majid, Paul Hetterich, Amy Hietala, Ashley Kelsey, Tracy Klug, Barbara Lesko, Michelle Mills, Shawn Moloney, Partha Neogi, Joseph Orsini, Douglas Singer, Konstantinos Petritis
المصدر: International Journal of Neonatal Screening, Vol 9, Iss 1, p 11 (2023)
مصطلحات موضوعية: harmonization, pompe, MPS I, newborn screening, digital microfluidics, tandem mass spectrometry, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang, Dietrich Matern
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 4, p 62 (2022)
مصطلحات موضوعية: newborn screening, tandem mass spectrometry, liquid chromatography, dried blood spots, inborn errors of metabolism, reflex testing, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Heather Bilyeu, Jon Washburn, Lacey Vermette, Tracy Klug
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 4, p 79 (2020)
مصطلحات موضوعية: Hunter syndrome, mucopolysaccharidosis II, newborn screening, analytical validation, clinical validation, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4
المؤلفون: Lacey Vermette, Heather Bilyeu, Tracy Klug, Jon Washburn
المصدر: International Journal of Neonatal Screening
Volume 6
Issue 4
International Journal of Neonatal Screening, Vol 6, Iss 79, p 79 (2020)مصطلحات موضوعية: medicine.medical_specialty, analytical validation, Advisory committee, mucopolysaccharidosis II, Article, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), 030225 pediatrics, Internal medicine, medicine, Presumptive positive, Mucopolysaccharidosis type II, Newborn screening, business.industry, newborn screening, lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, Hunter syndrome, medicine.disease, Highly sensitive, Dried blood spot, Pediatrics, Perinatology and Child Health, Population screening, business, clinical validation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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5
المؤلفون: Meghan Strenk, Dawn Peck, Dimitar Gavrilov, Dietrich Matern, Piero Rinaldo, Esperanza Font-Montgomery, Jennifer L. Gannon, Devin Oglesbee, Tracy Klug, Amy L. White, Bryce A. Heese, Silvia Tortorelli, April Studinski, Jennifer Burton, Gisele Pino, Kimiyo Raymond, Randi Gadea, George E. Hoganson
المصدر: Molecular Genetics and Metabolism. 132:S23
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Newborn screening, business.industry, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Internal medicine, Genetics, Medicine, Biomarker (medicine), Mucopolysaccharidosis type II, business, Molecular Biology
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6
المؤلفون: Candice Brannen, Jami Kiesling, Jon Washburn, Lori B Swartz, Tracy Klug
المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 1, p 11 (2020)
Volume 6
Issue 1مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Newborn screening, newborn screening, business.industry, Public health, lcsh:RJ1-570, Pompe disease, Obstetrics and Gynecology, lcsh:Pediatrics, Disease, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), pseudodeficiency, Pediatrics, Perinatology and Child Health, Pseudodeficiency alleles, follow-up, medicine, Clinical phenotype, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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7
المؤلفون: Tracy Klug, Sharmini Rogers, Julie Raburn-Miller, Jami Kiesling, Patrick V. Hopkins, Lacey Vermette
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, health care facilities, manpower, and services, education, MEDLINE, Lysosomal storage disorders, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Glycogen storage disease type II, Mucopolysaccharidosis I, medicine, Research Letter, Humans, Prospective Studies, Prospective cohort study, Newborn screening, Missouri, business.industry, Incidence (epidemiology), Incidence, Infant, Newborn, social sciences, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery, geographic locations
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3473ca411d27d8e4a5f1dcef2a315ce1
https://europepmc.org/articles/PMC6137509/ -
8
المؤلفون: Carlene Campbell, Julie Raburn-Miller, Jami Kiesling, Tracy Klug, Sharmini Rogers, Patrick V. Hopkins
المصدر: The Journal of Pediatrics. 166:172-177
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Mucopolysaccharidosis I, Microfluidics, Population, Pilot Projects, Disease, Mucopolysaccharidosis type I, Neonatal Screening, Predictive Value of Tests, medicine, Humans, Fluorometry, Disorder screening, education, education.field_of_study, Newborn screening, Gaucher Disease, Missouri, Glycogen Storage Disease Type II, business.industry, Infant, Newborn, medicine.disease, Fabry disease, Dried blood spot, Surgery, Lysosomal Storage Diseases, Predictive value of tests, Pediatrics, Perinatology and Child Health, Fabry Disease, Female, business
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9
المؤلفون: Tracy Klug, Jami Kiesling, Patrick V. Hopkins, Sharmini Rogers
المصدر: Molecular Genetics and Metabolism. 120:S66
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, Endocrinology, Diabetes and Metabolism, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Genetics, medicine, High incidence, business, Molecular Biology
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10
المؤلفون: Tracy Klug, Hui Zhou, Victor R. DeJesus, Deeksha Bali, David S. Millington, Gwen Dickerson, Patrick V. Hopkins
المصدر: Molecular Genetics and Metabolism. 108:S22
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Cathepsin D, Biology, Biochemistry, Molecular biology, Mucopolysaccharidosis type I, Endocrinology, medicine.anatomical_structure, Ubiquitin, Synaptic plasticity, Proteome, Genetics, medicine, biology.protein, Neuron, Shotgun proteomics, Molecular Biology, Neuroinflammation