Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Christine Dorley"'
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 62 (2022)
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, t
Externí odkaz:
https://doaj.org/article/41ab3a50602847f5af0ca36577a457d0
Autor:
Charles Lechner, Marc Rumpler, Mary Christine Dorley, Yinmei Li, Amanda Ingram, Hilary Fryman
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 49 (2022)
Newborn screening (NBS) is a vital public health program and delays in the screening process can lead to catastrophic outcomes for infants and their families. Efforts to improve screening quality in Tennessee are proactive and ongoing. From these eff
Externí odkaz:
https://doaj.org/article/1ab50a847e07455889bf88c0cd8c043c
Autor:
Michael A. Bender, Mary Hulihan, Mary Christine Dorley, Maria del Pilar Aguinaga, Jelili Ojodu, Careema Yusuf
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 83 (2021)
Beta-thalassemia, a heritable condition of abnormal hemoglobin production, is not a core condition on the United States Recommended Uniform Screening Panel (RUSP) for state and territorial newborn screening (NBS) programs. However, screening for sick
Externí odkaz:
https://doaj.org/article/3f046655ab924e789dc2e5a3c836ce89
Autor:
Maria Del Pilar Aguinaga, Kathryn L. Hassell, M A Bender, Tim Davis, M Christine Dorley, Mary Hulihan, Ming S Chan, Jelili Ojodu, Amanda Ingram, Joseph C Ubaike, Careema Yusuf
Publikováno v:
Morbidity and Mortality Weekly Report
Alpha-thalassemia comprises a group of inherited disorders in which alpha-hemoglobin chain production is reduced. Depending on the genotype, alpha-thalassemia results in moderate to profound anemia, hemolysis, growth delays, splenomegaly, and increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cabee993fd73c14ec4fe97fb0793b11
http://europepmc.org/articles/PMC7499831
http://europepmc.org/articles/PMC7499831
Autor:
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
Publikováno v:
International Journal of Neonatal Screening
Volume 9
Issue 1
Pages: 11
Volume 9
Issue 1
Pages: 11
In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e40894232299eab8ae6a6fda417557ec
https://doi.org/10.3390/ijns9010011
https://doi.org/10.3390/ijns9010011
Autor:
Dawn Peck, M. Christine Dorley, Silvia Tortorelli, Joseph J. Orsini, Joanne Kurtzberg, Amy L. White, Dimitar Gavrilov, Vinod K. Prasad, Dietrich Matern, Coleman T. Turgeon, Gessi Bentz Pino, Ai Sakonju, Michael H. Gelb, Kimiyo Raymond, Piero Rinaldo, Devin Oglesbee, Joan E. Pellegrino, April Studinksi
Publikováno v:
Molecular Genetics and Metabolism. 123:S142
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::084779e862b98b0e01aa00755a183917
https://doi.org/10.1016/j.ymgme.2017.12.392
https://doi.org/10.1016/j.ymgme.2017.12.392
Akademický článek
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Autor:
M. Christine Dorley, Elizabeth Bair, Patricia Ryland, Amanda D. Ingram, Emily Reeves, Kara J. Levinson, Ona O. Adair, Jenny F. Meredith, Susanne Crowe
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 55 (2024)
Three incidents that impacted two US newborn screening (NBS) programs highlight the importance of contingency planning for the continuity of operations (COOP). Other NBS programs may benefit from the experience of these state programs for their own c
Externí odkaz:
https://doaj.org/article/7a90c22e4a1549f881d9ab9eece5ce22
Autor:
Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 58 (2022)
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels bel
Externí odkaz:
https://doaj.org/article/304dd445b57e49f2992e15dc0f65b32c