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Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs

CITE Title : Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs Personal Author(s) : De Jesús, Víctor R.;Adam, Barbara W.;Mandel, Daniel;Cuthbert, Carla D.;Matern, Dietrich; Published Date : 2014 Sep-Oct Source : Mol Genet Metab. 113(0):67-75. URL : https://stacks.cdc.gov/view/cdc/32851 De Jesús, Víctor R. et al. (2014). Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs. 113(0). De Jesús, Víctor R. et al. "Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs" 113, no. 0 (2014) De Jesús, Víctor R. et al. "Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs" vol. 113, no. 0, 2014 Export RIS Citation Information.

:

De Jesús, Víctor R. ;

Adam, Barbara W.

2014 Sep-Oct | Mol Genet Metab. 113(0):67-75.

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Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liv...
The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality

CITE Title : The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality Personal Author(s) : De Jesús, Víctor R.;Mei, Joanne V.;Cordovado, Suzanne K.;Cuthbert, Carla D.; Published Date : 2015;2015; Source : Int J Neonatal Screen. 1(1):13-26 URL : https://stacks.cdc.gov/view/cdc/33106 De Jesús, Víctor R. et al. (2015). The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality. 1(1). De Jesús, Víctor R. et al. "The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality" 1, no. 1 (2015) De Jesús, Víctor R. et al. "The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality" vol. 1, no. 1, 2015 Export RIS Citation Information.

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De Jesús, Víctor R. ;

Mei, Joanne V.

2015 | Int J Neonatal Screen. 1(1):13-26

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Newborn screening is the largest genetic testing effort in the United States and is considered one of the ten great public health achievements during ...
Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing

CITE Title : Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing Personal Author(s) : Hendrix, Miyono M.;Cuthbert, Carla D.;Cordovado, Suzanne K.; Published Date : 4 30 2020;6-2020; Source : Int J Neonatal Screen. 6(2) URL : https://stacks.cdc.gov/view/cdc/89154 Hendrix, Miyono M. et al. (2020). Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing. 6(2). Hendrix, Miyono M. and Cuthbert, Carla D. and Cordovado, Suzanne K. "Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing" 6, no. 2 (2020) Hendrix, Miyono M. et al. "Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing" vol. 6, no. 2, 2020 Export RIS Citation Information.

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Hendrix, Miyono M. ;

Cuthbert, Carla D.

4 30 2020 | Int J Neonatal Screen. 6(2)

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An increasing number of newborn screening laboratories in the United States and abroad are moving towards incorporating next-generation sequencing tec...
Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

CITE Title : Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia? Personal Author(s) : Sarafoglou, Kyriakie;Gaviglio, Amy;Wolf, Carrie;Lorentz, Cindy P.;Lteif, Aida;Kyllo, Jennifer;Radloff, Gretchen;Detwiler, Zachary;Cuthbert, Carla D.;Hodges, James S.;Grosse, Scott D.;Greene, Christopher N.;Cordovado, Suzanne; Published Date : 5 03 2024 Source : J Clin Endocrinol Metab. URL : https://stacks.cdc.gov/view/cdc/168901 Sarafoglou, Kyriakie et al. (2024). Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?. Sarafoglou, Kyriakie et al. "Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?" (2024) Sarafoglou, Kyriakie et al. "Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?" , 2024 Export RIS Citation Information.

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Sarafoglou, Kyriakie

;

Gaviglio, Amy

5 03 2024 | J Clin Endocrinol Metab.

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Context:Single-tier newborn screening (NBS) for congenital adrenal hyperplasia (CAH) using 17-hydroxyprogesterone (17OHP) measured by fluoroimmunoassa...

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November 03, 2025
Newborn screening; improving outcomes

CITE Title : Newborn screening; improving outcomes Personal Author(s) : Cuthbert, Carla D.;Grosse, Scott D.;Howell, R. Rodney;Joiner, Shane;Popovic, Tanya;Tait, V. Fan;Terry, Sharon F.; Corporate Authors(s) : Centers for Disease Control and Prevention (U.S.), Office of the Associate Director for Communication.;National Center for Environmental Health (US), Division of Laboratory Sciences., Newborn Screening and Molecular Biology Branch.;National Center on Birth Defects and Developmental Disabilities (Centers for Disease Control and Prevention), Division of Blood Disorders., Health Services Research and Evaluation; Published Date : August 18, 2011 Pages in Document : electronic resource; remote Series : Public Health Grand Rounds URL : https://stacks.cdc.gov/view/cdc/5982 Cuthbert, Carla D. et al. (2011). Newborn screening; improving outcomes. Cuthbert, Carla D. et al. "Newborn screening; improving outcomes" (2011) Cuthbert, Carla D. et al. "Newborn screening; improving outcomes" , 2011 Export RIS Citation Information.

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Cuthbert, Carla D. ;

Grosse, Scott D.

August 18, 2011 | Public Health Grand Rounds

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In the last five decades, newborn screening has become a well-defined, nationwide prevention program. Each year, more than 4 million newborns in the U...