Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
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Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometryNewborn Sequencing in Genomic Medicine and Public Health.Congenital Hypothyroidism Long-Term Follow-up Project: Navigating the Rough Waters of a Multi-Center, Multi-State Public Health Project.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD DeficiencyVariants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.Newborn screening for Krabbe's disease.Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California.Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening.Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.Response to Gelb et al.: "Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs".Undiagnosed metabolic dysfunction and sudden infant death syndrome--a case-control study.Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.Effects of birth weight on profiles of dried blood amino-acids and acylcarnitines.Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.Newborn Screening: Beyond the Spot.Precision newborn screening for lysosomal disorders.Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.Targeted metabolomics in the expanded newborn screening for inborn errors of metabolismMetabolomics: a challenge for detecting and monitoring inborn errors of metabolism
P2860
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P2860
Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@ast
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@en
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@nl
type
label
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@ast
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@en
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@nl
prefLabel
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@ast
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@en
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@nl
P2093
P2860
P356
P1433
P1476
Postanalytical tools improve p ...... g by tandem mass spectrometry.
@en
P2093
David M S McHugh
Gregg Marquardt
Piero Rinaldo
Stephanie D Stoway
P2860
P2888
P304
P356
10.1038/GIM.2014.62
P407
P577
2014-05-29T00:00:00Z