Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
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Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyIsolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyFetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementNeonatal diagnosis and treatment of Menkes diseaseMass spectrometry-based proteomics for pre-eclampsia and preterm birthNatural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyProgress along developmental tracks for electronic health records implementation in the United StatesMetabolomics enables precision medicine: "A White Paper, Community Perspective"Mass spectrometry-based metabolomics.A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.The use of biophysical proteomic techniques in advancing our understanding of diseases.Healthcare professionals' and parents' experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot.Metabolomics of Ramadan fasting: an opportunity for the controlled study of physiological responses to food intakeIncidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.The impact of false-positive newborn screening results on families: a qualitative study.Mass-spectrometry-based clinical proteomics--a review and prospective.Psychological effects of false-positive results in expanded newborn screening in China.Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.Folate catabolites in spot urine as non-invasive biomarkers of folate status during habitual intake and folic acid supplementation.High incidence of later-onset fabry disease revealed by newborn screeningMetabolic fingerprinting as a diagnostic tool.Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.Clinical Reasoning: An encephalopathic 3-day-old infant.Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free dietNewborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babiesAn Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.Paper spray ionization devices for direct, biomedical analysis using mass spectrometry.Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby.Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningNetworking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.Correlation between Hypoglycemia and Positive Rate of Inborn Error of Metabolism in Neonatal Intensive Care Unit.Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy.3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients
P2860
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P2860
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Expanded newborn screening for ...... ts, outcome, and implications.
@ast
Expanded newborn screening for ...... ts, outcome, and implications.
@en
Expanded newborn screening for ...... ts, outcome, and implications.
@nl
type
label
Expanded newborn screening for ...... ts, outcome, and implications.
@ast
Expanded newborn screening for ...... ts, outcome, and implications.
@en
Expanded newborn screening for ...... ts, outcome, and implications.
@nl
prefLabel
Expanded newborn screening for ...... ts, outcome, and implications.
@ast
Expanded newborn screening for ...... ts, outcome, and implications.
@en
Expanded newborn screening for ...... ts, outcome, and implications.
@nl
P2093
P356
P1433
P1476
Expanded newborn screening for ...... ts, outcome, and implications.
@en
P2093
Andreas Schulze
Dirk Kohlmüller
Ertan Mayatepek
Georg F Hoffmann
Katharina Olgemöller
Martin Lindner
P304
P356
10.1542/PEDS.111.6.1399
P407
P433
P577
2003-06-01T00:00:00Z