Postanalytical tools improve performance of newborn screening by tandem mass spectrometry
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Postanalytical tools improve performance of newborn screening by tandem mass spectrometry
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume 16, Issue 12, Pages 889-895
Publisher
Springer Nature
Online
2014-05-29
DOI
10.1038/gim.2014.62
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
- (2014) J. Lawrence Merritt et al. MOLECULAR GENETICS AND METABOLISM
- Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children
- (2013) Alex R. Kemper et al. GENETICS IN MEDICINE
- Enhanced interpretation of newborn screening results without analyte cutoff values
- (2012) Gregg Marquardt et al. GENETICS IN MEDICINE
- Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
- (2012) George A. Diaz et al. HEPATOLOGY
- Detection of TPN contamination of dried blood spots used in newborn and metabolic screening and its impact on quantitative measurement of amino acids
- (2011) Donald H. Chace et al. CLINICA CHIMICA ACTA
- Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
- (2011) David M S McHugh et al. GENETICS IN MEDICINE
- False-Positive Newborn Screening Result and Future Health Care Use in a State Medicaid Cohort
- (2011) B. A. Tarini et al. PEDIATRICS
- Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry
- (2010) C. T. Turgeon et al. CLINICAL CHEMISTRY
- The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings
- (2010) Lisa Feuchtbaum et al. GENETICS IN MEDICINE
- Isolated remethylation disorders: do our treatments benefit patients?
- (2010) Manuel Schiff et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry
- (2010) Silvia Tortorelli et al. JOURNAL OF PEDIATRICS
- Improving newborn screening laboratory test ordering and result reporting using health information exchange
- (2010) Stephen M Downs et al. JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
- Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study
- (2010) Philippe M. Campeau et al. MOLECULAR GENETICS AND METABOLISM
- Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte
- (2009) James D. Weisfeld-Adams et al. MOLECULAR GENETICS AND METABOLISM
- Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
- (2009) Ni-Chung Lee et al. MOLECULAR GENETICS AND METABOLISM
- Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia
- (2009) K. R. Atkuri et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Quantification of malonylcarnitine in dried blood spots by use of MS/MS varies by stable isotope internal standard composition
- (2008) Donald H. Chace et al. CLINICA CHIMICA ACTA
- Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)
- (2008) D. Oglesbee et al. CLINICAL CHEMISTRY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationPublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More