Zobrazeno 1 - 10
of 15
pro vyhledávání: '"David E. Sesser"'
Autor:
Arthur Yu, Bruce A. Barshop, David E. Sesser, Fred Lorey, Cheryl A. Hermerath, Jose E. Abdenur, Sverre Vedal, Sylvia M. Au, J. Lawrence Merritt, Cary O. Harding, Lisa Feuchtbaum, John D. Thompson
Publikováno v:
Molecular Genetics and Metabolism. 111:484-492
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder with widely varying presentations that has presented a significant challenge to newborn screening (NBS). The Western States Regional Genetics Services Colla
Publikováno v:
Hormone research in paediatrics. 86(3)
Background/Aims: The newborn screening (NBS) program in Oregon, USA, collects two routine specimens in all infants. The aim of our study was to determine the incidence of permanent versus transient congenital hypothyroidism (CH) in infants detected o
Autor:
William E. Lambert, Thalia Wood, Monique A. Johnson, Leanne Rien, Melanie B. Gillingham, David E. Sesser, Stephanie Birch, C. Sue Richards, Bradford D. Gessner, David M. Koeller, Cary O. Harding, Michael R. Skeels, Cheryl A. Hermerath
Publikováno v:
The Journal of Pediatrics. 158:124-129
Objectives To use genotype analysis to determine the prevalence of the c.1436C→T sequence variant in carnitine palmitoyltransferase 1A (CPT1A) among Alaskan infants, and evaluate the sensitivity of newborn screening by tandem mass spectrometry (MS/
Autor:
Gregg Marquardt 1, Robert Currier, PhD 2, David M. S. McHugh 1, Dimitar Gavrilov, PhD 1, Mark J. Magera 1, Dietrich Matern, MD 1, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman T. Turgeon 1, Fred Lorey, Bridget Wilcken, MD 3, Veronica Wiley, PhD 3, Lawrence C. Greed, BSc 4, Barry Lewis, MD 4, François Boemer, PharmD PhD 5, Roland Schoos, PhD 5, Sandrine Marie, PhD 6, Marie Françoise Vincent, Yuri Cleverthon Sica, Msc 7, Mouseline Torquado Domingos 7, Khalid Al Thihli, MD 8, Graham Sinclair, PhD 8, Osama Y. Al Dirbashi, PhD 9, Pranesh Chakraborty, MD 9, Mark Dymerski 10, Cory Porter 10, Adrienne Manning, Margretta R. Seashore, MD 12, Jonessy Quesada, MD 13, Alejandra Reuben 13, Petr Chrastina, MSc 14, Petr Hornik, PhD 14, Iman Atef Mandour, MD 15, Sahar Abdel Atty Sharaf, Olaf Bodamer, PhD 16, Bonifacio Dy, MD 17, Jasmin Torres 17, Roberto Zori, MD 18, David Cheillan, PhD 19, Christine Vianey Saban, David Ludvigson 20, Adrya Stembridge 21, Jim Bonham, PhD 22, Melanie Downing, Msc 22, Yannis Dotsikas, PhD 23, Yannis L. Loukas, Vagelis Papakonstantinou, PhD 24, Georgios S. A. Zacharioudakis, Ákos Baráth, PhD 25, Eszter Karg, Leifur Franzson, PhD 26, Jon J. Jonsson, Nancy N. Breen 27, Barbara G. Lesko 27, Stanton L. Berberich, PhD 28, Kimberley Turner, RN 29, MD 30, Emanuela Scolamiero 30, Italo Antonozzi, MD 31, Claudia Carducci, MS 31, Ubaldo Caruso 32, Michela Cassanello 32, Giancarlo la Marca, Pharm Sc 33, Elisabetta Pasquini, MD 34, Iole Maria Di Gangi, PhD 35, Giuseppe Giordano, Marta Camilot, PhD 36, Francesca Teofoli 36, Shawn M. Manos, BS 37, Colleen K. Peterson, Stephanie K. Mayfield Gibson, MD 38, Darrin W. Sevier 38, Soo Youn Lee, PhD 39, Hyung2 Doo Park, Issam Khneisser, MS 40, Phaidra Browning 41, Fizza Gulamali Majid, PhD 42, Michael S. Watson, PhD 43, Roger B. Eaton, PhD 44, Inderneel Sahai, MD 44, Consuelo Ruiz 45, Rosario Torres 45, Mary A. Seeterlin, PhD 46, Eleanor L. Stanley 46, Amy Hietala 47, Mark McCann 47, Carlene Campbell 48, Patrick V. Hopkins 48, Monique G. de Sain Van der Velden, PhD 49, Bert Elvers 50, Mark A. Morrissey, PhD 51, Sherlykutty Sunny 51, Detlef Knoll, MSc 52, Dianne Webster, PhD 52, Dianne M. Frazier, PhD 53, Julie D. McClure, MPH 53, David E. Sesser 54, Sharon A. Willis 54, Hugo Rocha, Msc 55, Laura Vilarinho, PhD 55, Catharine John, PhD 56, James Lim, S. Graham Caldwell 57, Kathy Tomashitis, MNS 57, Daisy E. Castiñeiras Ramos 58, Jose Angel Cocho de Juan, PhD 58, Inmaculada Rueda Fernández, MD 59, Raquel Yahyaoui Macías, José María Egea Mellado 60, Inmaculada González Gallego, PhD 60, Carmen Delgado Pecellin, PhD 61, Maria Sierra García Valdecasas Bermejo, Yin Hsiu Chien, PhD 62, Wuh Liang Hwu, Thomas Childs, MT 63, Christine D. McKeever 63, Tijen Tanyalcin, PhD 64, Mahera Abdulrahman, PhD 65, Cecilia Queijo, PhD 66, Aída Lemes, MD 66, Tim Davis 67, William Hoffman 67, Mei Baker, MD 68, Gary L. Hoffman 6.8., RUOPPOLO, MARGHERITA
A collaboration among 157 newborn screening programs in 47 countries has lead to the creation of a database of 705,333 discrete analyte concentrations from 11,462 cases affected with 57 metabolic disorders, and from 631 heterozygotes for 12 condition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::dfa15fc0545603c550ef053eb448d9c3
http://hdl.handle.net/11588/464388
http://hdl.handle.net/11588/464388
Autor:
Stephen H. LaFranchi, David B Snyder, Nalini Singh, Jerald C. Nelson, Michael R. Skeels, Gregory A Brent, David E. Sesser
Publikováno v:
The Journal of Pediatrics. 143:296-301
Objective To determine the type and incidence of hyperthyroxinemic disorders detected by follow-up of infants with elevated screening total T4 (TT4) values. Study design Infants born in Oregon with a screening TT4 measurement >3 SD above the mean wer
Autor:
David B Snyder, Sam Pino, Elizabeth N. Pearce, Kara J. Connelly, David E. Sesser, Bruce A. Boston, Lewis E. Braverman, Stephen H. LaFranchi
Publikováno v:
The Journal of Pediatrics. 161:760-762
We report the cases of 3 infants with congenital hypothyroidism detected with the use of our newborn screening program, with evidence supporting excess maternal iodine ingestion (12.5 mg/d) as the etiology. Levels of whole blood iodine extracted from
Autor:
Stephen H. LaFranchi, David E. Sesser, Leanne Rien, Richard S. Miyahira, Maya K. Hunter, Scott H. Mandel, Michael R. Skeels
Publikováno v:
The Journal of Pediatrics. 132:70-74
To determine the type and frequency of thyroid disorders detected in infants with low thyroxine (T4) and nonelevated thyroid-stimulating hormone (TSH) screening test results in the Northwest Regional Newborn Screening Program (NWRNSP) over the 20-yea
Autor:
Steven R. Katkowsky, Steven H. Lamm, Gloria M. Deyhle, Feng Xiao Li, David E. Sesser, Daniel M. Byrd, Michael R. Skeels
Publikováno v:
Teratology. 62:429-431
Background The effect of perchlorate in drinking water on neonatal blood thyroid-stimulating hormone (thyrotropin; TSH) levels was examined for Las Vegas and Reno, Nevada. Methods The neonatal blood TSH levels in Las Vegas (with up to 15 μg/L (ppb)
Autor:
Karin A. Selva, Michael R. Skeels, Scott H. Mandel, Jerald C. Nelson, David E. Sesser, Leanne Rien, Richard S. Miyahira, Stephen H. LaFranchi
Publikováno v:
The Journal of pediatrics. 141(6)
Objectives: To determine the optimal initial treatment dose of L-thyroxine in congenital hypothyroidism (CH) by evaluating the time course of rise of thyroxine (T 4 ) and free T 4 concentrations into an established "target range" and normalization of
Autor:
Michael R. Skeels, David E. Sesser, Zili Li, Gloria M. Deyhle, Steven H. Lamm, Feng Xiao Li, Dan Byrd
Publikováno v:
Journal of occupational and environmental medicine. 42(2)
Environmental contamination of drinking water has been observed for perchlorate, a chemical able to affect thyroid function. This study examines whether that exposure affected the thyroid function of newborns. Neonatal blood thyroxine (T4) levels for