Zobrazeno 1 - 6
of 6
pro vyhledávání: '"P T, Turgeon"'
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:
Coleman T Turgeon, Karen A Sanders, Piero Rinaldo, Dane Granger, Heather Hilgart, Dietrich Matern, Elitza S Theel
Publikováno v:
PLoS ONE, Vol 16, Iss 5, p e0252621 (2021)
BackgroundDried blood spots (DBS) are an established specimen type for clinical testing given their low cost, ease of collection and storage, and convenient shipping capabilities through the postal system. These attributes are complementary to the ex
Externí odkaz:
https://doaj.org/article/8536055b822b454c98a7f874742b94d3
Autor:
Aashish N. Adhikari, Robert J. Currier, Hao Tang, Coleman T. Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan, Uma Sunderam, Pui-Yan Kwok, Steven E. Brenner, Dimitar Gavrilov, Jennifer M. Puck, Renata Gallagher
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 41 (2020)
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of β-oxidation caused by pathogenic variants in the ACADS gene. Analyte testing for SCADD in blood and urine, including newborn screening (NBS) using tandem
Externí odkaz:
https://doaj.org/article/f93e850c2d934023a7aeffb95c4f2643
Autor:
Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 44 (2020)
Newborn screening for one or more lysosomal disorders has been implemented in several US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass spectrometry or digital microfluidics. Another multiplex assay making use of immun
Externí odkaz:
https://doaj.org/article/66e4a898e05e487fa194cc076302a01f
Autor:
Zackary Herbst, Coleman T. Turgeon, Chad Biski, Hamid Khaledi, Nancy B. Shoemaker, Patrick D. DeArmond, Sara Smith, Joseph Orsini, Dietrich Matern, Michael H. Gelb
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 29 (2020)
Measurement of the absolute concentration of the biomarker psychosine in dried blood spots (DBS) is useful for diagnosis and prognosis of Krabbe disease and to support newborn screening of this leukodystrophy. As for assays for more common diseases,
Externí odkaz:
https://doaj.org/article/6defee208e564c8ebf95cb21f298227d
Publikováno v:
Cornea. 10(1)
Pseudomonas aeruginosa produces proteolytic enzymes capable of causing severe corneal degradation. In this study we tested aprotinin, a broad-spectrum protease inhibitor, on rabbit corneas infected with P. aeruginosa to determine whether any benefit