Zobrazeno 1 - 10
of 164
pro vyhledávání: '"W Harry, Hannon"'
Autor:
Cynthia F. Hinton, Stuart K. Shapira, Patrice K. Held, W. Harry Hannon, Jelili Ojodu, Elizabeth Jones
Publikováno v:
Molecular Genetics and Metabolism. 116:125-132
Routine second screening of most newborns at 8–14 days of life for a panel of newborn conditions occurs in 12 U.S. states, while newborns in the other states typically undergo only a single routine newborn screen. The study objective was to evaluat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1047728a3db32755483746f78c3569
https://doi.org/10.1016/j.ymgme.2015.08.003
https://doi.org/10.1016/j.ymgme.2015.08.003
Autor:
Robert F. Vogt, Golriz Khadem Yazdanpanah, John F. Staropoli, Mei Liu, John P. Carulli, Chao Sun, Francis K. Lee, Jennifer L. Taylor, Steven F. Dobrowolski, W. Harry Hannon
Publikováno v:
Clin Chem
BACKGROUND Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea21275e269ae0764b9086d3c857c78
https://doi.org/10.1373/clinchem.2014.231019
https://doi.org/10.1373/clinchem.2014.231019
Publikováno v:
Molecular Genetics and Metabolism. 106:1-6
On May 23-24, 2011, a workshop entitled "Immunoreactive Trypsinogen (IRT) as a Biomarker for Cystic Fibrosis: Technical Issues and Challenges" was held in Annapolis, Maryland. The two-day workshop was co-hosted by the National Newborn Screening and G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::785f0c83e8b8064b294683acb9f11ae6
https://doi.org/10.1016/j.ymgme.2012.02.013
https://doi.org/10.1016/j.ymgme.2012.02.013
Autor:
Víctor R. De Jesús, Donald H. Chace, Timothy H. Lim, Alan R. Spitzer, Reese H. Clark, W. Harry Hannon
Publikováno v:
Clinica Chimica Acta. 412:1385-1390
Background Markers derived from dextrose ( d -glucose) are observed in the MS/MS-based acylcarnitine profiles from dried-blood spots of some premature infants receiving intravenous nutrition. The presence of these markers at m/z 325, 399 and 473 are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a844ea43613df35eaaf67f58351c4e
https://doi.org/10.1016/j.cca.2011.04.009
https://doi.org/10.1016/j.cca.2011.04.009
Autor:
Peter J. Mogayzel, Anita Laxova, Suzanne K. Cordovado, Marie C. Earley, Philip M. Farrell, W. Harry Hannon, Rena Driscoll-Dunn, Michael W. Konstan
Publikováno v:
Clinica Chimica Acta. 412:1376-1381
CDC's Newborn Screening Quality Assurance Program collaborated with several U.S. Cystic Fibrosis Care Centers to collect specimens for development of a molecular CFTR proficiency testing program using dried-blood spots for newborn screening laborator
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68b0a5dc66840b5d81a5f45af3f38816
https://doi.org/10.1016/j.cca.2011.04.011
https://doi.org/10.1016/j.cca.2011.04.011
Autor:
W. Harry Hannon, Joanne V. Mei, Maya R. Sternberg, Nancy K. Meredith, Donald H. Chace, Víctor R. De Jesús, Timothy H. Lim
Publikováno v:
Clinica Chimica Acta. 412:631-635
Background The use of tandem mass spectrometry (MS/MS) for the analysis of amino acids and acylcarnitines from dried-blood spots (DBS) has become routine practice in newborn screening laboratories. The Newborn Screening Quality Assurance Program (NSQ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e882fd8f4190dc4dcbd5019dc01aa20
https://doi.org/10.1016/j.cca.2010.12.021
https://doi.org/10.1016/j.cca.2010.12.021
Autor:
Margaret A. Honein, W. Harry Hannon, Jeffrey L. Jones, Sonja A. Rasmussen, Shu Chaing, Joanne V. Mei, Lixia Li, Fred Lorey, Gary M. Shaw, Mark A. Canfield, Sarah A. Collier, Jaime L. Frias, Robert E. Meyer
Publikováno v:
Clinica Chimica Acta. 412:455-459
Background Newborn screening programs store—under varying conditions—residual dried blood spots (DBS). Residual DBS were used to investigate the contribution of congenital infection with Toxoplasma gondii to the etiology of hydrocephalus and as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::966e9fb034a95ebae5133041ef712218
https://doi.org/10.1016/j.cca.2010.11.028
https://doi.org/10.1016/j.cca.2010.11.028
Autor:
Barbara W. Adam, Sherri D Zobel, W. Harry Hannon, Elizabeth M. Hall, Joanne V. Mei, Víctor R. De Jesús
Publikováno v:
Bioanalysis. 2:1397-1403
Background: The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention assesses the adherence to established performance standards of manufactured lots of whole blood filter paper collection devices that are reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1216851dd64e3f898c82fefa7c805669
https://doi.org/10.4155/bio.10.73
https://doi.org/10.4155/bio.10.73
Publikováno v:
Clinica Chimica Acta. 411:684-689
The analysis of amino acids (AA) and acylcarnitines (AC) by tandem mass spectrometry (MS/MS) is performed in newborn screening laboratories worldwide. While butyl esterification assays are routine, it is possible to detect AAs and ACs as their native
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65247bc94a9e642cb75d1f045ddf1396
https://doi.org/10.1016/j.cca.2010.01.034
https://doi.org/10.1016/j.cca.2010.01.034
Autor:
Bradford L, Therrell, Marion, Schwartz, Carol, Southard, Donna, Williams, W Harry, Hannon, Marie Y, Mann, Sheila, Weiss
Publikováno v:
Seminars in Perinatology. 34:105-120
Newborn screening (NBS) reaches approximately all of the 4 million newborns in the United States each year and has been effective in significantly reducing the morbidity and mortality that results from certain congenital conditions. The comprehensive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::252fe51ec97273ab8fe670f530ec07e3
https://doi.org/10.1053/j.semperi.2009.12.002
https://doi.org/10.1053/j.semperi.2009.12.002