The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.
about
Mass spectrometry-based metabolomics.Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiencyDigital microfluidics: a future technology in the newborn screening laboratory?Differentiation and quantification of C1 and C2 (13)C-labeled glucose by tandem mass spectrometry.Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screeningn-3 polyunsaturated fatty acids supplementation enhances hippocampal functionality in aged mice.Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsMetabolic fingerprinting as a diagnostic tool.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Cellular metabolism and disease: what do metabolic outliers teach us?Screening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China.The expanding role of mass spectrometry in metabolite profiling and characterization.Study of the fragmentation of arginine isobutyl ester applied to arginine quantification in Aedes aegypti mosquito excreta.The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.Monitoring the health to disease continuum with global metabolic profiling and systems biology.Development of a metabolic biosignature for detection of early Lyme disease.Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry.Lysosomal storage disorders in the newborn.Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Dynamic and temporal assessment of human dried blood spot MS/MSALL shotgun lipidomics analysisDirect analysis of dried blood spots coupled with mass spectrometry: concepts and biomedical applications.Vitamin D and metabolites measurement by tandem mass spectrometry.Inborn errors of metabolism and expanded newborn screening: review and update.Emerging liquid chromatography-mass spectrometry technologies improving dried blood spot analysis.Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.Progress toward improved therapies for inborn errors of metabolism.Discovery bioanalysis and in vivo pharmacology as an integrated process: a case study in oncology drug discovery.Small molecules as therapeutic agents for inborn errors of metabolism.Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.A novel method for quantification of human hemoglobin from dried blood spots by use of tandem mass spectrometry.Integrated Metabolomics Assessment of Human Dried Blood Spots and Urine Strips.Selective metabolite and peptide capture/mass detection using fluorous affinity tags.Identification and assay of underivatized urinary acylcarnitines by paper spray tandem mass spectrometry.A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.
P2860
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P2860
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.
description
2002 nî lūn-bûn
@nan
2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The application of tandem mass ...... rs of intermediary metabolism.
@ast
The application of tandem mass ...... rs of intermediary metabolism.
@en
The application of tandem mass ...... rs of intermediary metabolism.
@nl
type
label
The application of tandem mass ...... rs of intermediary metabolism.
@ast
The application of tandem mass ...... rs of intermediary metabolism.
@en
The application of tandem mass ...... rs of intermediary metabolism.
@nl
prefLabel
The application of tandem mass ...... rs of intermediary metabolism.
@ast
The application of tandem mass ...... rs of intermediary metabolism.
@en
The application of tandem mass ...... rs of intermediary metabolism.
@nl
P2093
P1476
The application of tandem mass ...... rs of intermediary metabolism.
@en
P2093
Donald H Chace
Edwin W Naylor
Theodore A Kalas
P356
10.1146/ANNUREV.GENOM.3.022502.103213
P577
2002-04-15T00:00:00Z