Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Fred, Lorey"'
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:
Amber McDonald, Devin Oglesbee, Ramanath Majumdar, Charles A. Kroll, Fred Lorey, Grazia Isaya, Hao Tang, Piero Rinaldo, Dimitar Gavrilov, Karen A. Sanders, Kimiyo Raymond, Jean M. Lacey, Silvia Tortorelli, Robert J. Currier, Dietrich Matern, Coleman T. Turgeon, Justin N. Tucker, John J. Hopwood
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 44, p 44 (2020)
International journal of neonatal screening
International Journal of Neonatal Screening
Volume 6
Issue 2
International journal of neonatal screening
International Journal of Neonatal Screening
Volume 6
Issue 2
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec07cb5893f268d80848415956ce220
https://www.mdpi.com/2409-515X/6/2/44
https://www.mdpi.com/2409-515X/6/2/44
Autor:
H. Tang, William R. Wilcox, Karen Leydiker, H.J. Lin, Natalie M. Gallant, Yael Wilnai, Seymour Packman, Gregory M. Enns, Chung Lee, Jose E. Abdenur, Lisa Feuchtbaum, Fred Lorey, Jennifer M. Carter, Stephen D. Cederbaum
Publikováno v:
Molecular Genetics and Metabolism. 122:76-84
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a56a3434b245e8c1ab0afce380bbc06
https://doi.org/10.1016/j.ymgme.2017.06.015
https://doi.org/10.1016/j.ymgme.2017.06.015
Autor:
Roya Doroudian, Thomson Ho, George Helmer, Gordon Frampton, Maryam R. Sartippour, Ajit Bhandal, Fred Lorey
Publikováno v:
Clinica Chimica Acta. 436:298-302
Background The California newborn screening program uses newborns' dried blood spots (DBS) to screen for more than 45 genetic disorders. Deficiency of galactose-1-phosphate uridyl transferase (GALT) is one of the metabolic genetic disorders screened
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9b0e8fd6e29fccdc5ddba25d6734e6
https://doi.org/10.1016/j.cca.2014.06.011
https://doi.org/10.1016/j.cca.2014.06.011
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18cd2e50b56848079dfe16e6968686c4
https://doi.org/10.1016/j.ymgme.2014.01.009
https://doi.org/10.1016/j.ymgme.2014.01.009
Autor:
Robert E. Meyer, Gary M. Shaw, Regina M. Simeone, Joanne V. Mei, Jeffrey L. Jones, Margaret A. Honein, Jaime L. Frias, Mark A. Canfield, Sonja A. Rasmussen, Sheila C. Dollard, Fred Lorey
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 97:431-436
BACKGROUND: Congenital hydrocephalus is a condition characterized by accumulation of cerebrospinal fluid in the ventricles of the brain. Prenatal infections are risk factors for some birth defects. This pilot study investigated whether residual dried
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b47c15d5ec1fd84c4719b41822663777
https://doi.org/10.1002/bdra.23138
https://doi.org/10.1002/bdra.23138
Publikováno v:
Genetics in Medicine. 14:937-945
The purpose of this study was to describe the birth prevalence of genetic disorders among different racial/ethnic groups through population-based newborn screening data. Between 7 July 2005 and 6 July 2010 newborns in California were screened for sel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d7ec33f4040117df8469e020a0c178
https://doi.org/10.1038/gim.2012.76
https://doi.org/10.1038/gim.2012.76
Publikováno v:
Prenatal Diagnosis. 32:1077-1083
Objectives The California Prenatal Screening Program serves over 350 000 women annually. This study examines utilization rates for the various screening options and patient choices regarding follow-up services. Methods The study tracked patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e70d907dff593cdd1740ba2755ca304b
https://doi.org/10.1002/pd.3961
https://doi.org/10.1002/pd.3961
Autor:
Hao Tang, Raymond Y. Wang, Naghmeh Dorrani, Fred Lorey, Julie Neidich, Erica Chang, R.L. Puckett, Natalie M. Gallant, Bruce A. Barshop, Karen Leydiker, Jose E. Abdenur, Joshua L. Deignan, Lisa Feuchtbaum, Stephen D. Cederbaum
Publikováno v:
Molecular Genetics and Metabolism. 106:55-61
Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical, genetic, and clinical characteristics. SCADD has been associated with accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01a97b0ed26b265c1293dbff63a6f084
https://doi.org/10.1016/j.ymgme.2012.02.007
https://doi.org/10.1016/j.ymgme.2012.02.007
Autor:
Jennifer M. Carter, Henry J. Lin, R J Coleman, K Devarajan, Adam J. Jonas, M F Austin, Fred Lorey, Lisa Feuchtbaum, B F Ferreira, Alan M. Kwong
Publikováno v:
Journal of Perinatology. 31:507-510
A 1890-g newborn on total parenteral nutrition (TPN) had phenylalanine levels reaching 4164 μM indicating phenylketonuria (PKU). Review of 64 PKU cases from the California Newborn Screening Program disclosed another newborn diagnosed while on TPN. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1a763c0ec91ce256e1ed1c3ed4fb66a
https://doi.org/10.1038/jp.2010.207
https://doi.org/10.1038/jp.2010.207