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1دورية أكاديمية
المؤلفون: Rachel S. Carling, Katy Hedgethorne, Anupam Chakrapani, Patricia L. Hall, Nick Flynn, Toby Greenfield, Stuart J. Moat, Joshua Ssali, Lynette Shakespeare, Nazia Taj, Teresa H. Y. Wu, Mark Anderson, Arunabha Ghosh, Hugh Lemonde, Germaine Pierre, Mark Sharrard, Sreevidya Sreekantam, James R. Bonham
المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 24 (2024)
مصطلحات موضوعية: isovaleric acidemia, false positive, newborn screening, inherited metabolic disease, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina
المصدر: International Journal of Neonatal Screening, Vol 9, Iss 1, p 8 (2023)
مصطلحات موضوعية: n/a, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 2, p 25 (2022)
مصطلحات موضوعية: newborn screening (NBS), inherited metabolic disease, inherited disorder, public health, paediatrics, rare diseases, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 1, p 20 (2022)
مصطلحات موضوعية: newborn screening (NBS), inherited metabolic disorder (IMD), public health, genetics, congenital disorder, lysosomal storage disorder (LSD), Pediatrics, RJ1-570
وصف الملف: electronic resource