Newborn screening: toward a uniform screening panel and system--executive summary
about
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyUniversal newborn screening for congenital CMV infection: what is the evidence of potential benefit?The Last Mile: Using Fax Machines to Exchange Data between Clinicians and Public HealthConsanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCDEvolving health care through personal genomics.Using whole-exome sequencing to identify inherited causes of autism.Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.New tools and approaches to newborn screening: ready to open Pandora's box?Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening.Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.Newborn Sequencing in Genomic Medicine and Public Health.Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.MALDI-ISD Mass Spectrometry Analysis of Hemoglobin Variants: a Top-Down Approach to the Characterization of Hemoglobinopathies.Framing optional genetic testing in the context of mandatory newborn screening tests.Decision analysis, economic evaluation, and newborn screening: challenges and opportunities.Eliciting parental support for the use of newborn blood spots for pediatric research.Return of Results from Research Using Newborn Screening Dried Blood SamplesShowing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findingsThe Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot SurveyParental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.Fatty Acid oxidation disorders in a chinese population in taiwan.Expectations and values about expanded newborn screening: a public engagement study.Impact of false-positive newborn metabolic screening results on early health care utilization.Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.Parental permission for pilot newborn screening research: guidelines from the NBSTRN.Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.Newborn screening and renal disease: where we have been; where we are now; where we are going.Dried blood spots in toxicology: from the cradle to the grave?Implications of newborn screening for nurses.Is gene discovery research or diagnosis?The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.
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Newborn screening: toward a uniform screening panel and system--executive summary
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2006 nî lūn-bûn
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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2006 թվականի մայիսին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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Newborn screening: toward a uniform screening panel and system--executive summary
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Newborn screening: toward a uniform screening panel and system--executive summary
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Newborn screening: toward a uniform screening panel and system--executive summary
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type
label
Newborn screening: toward a uniform screening panel and system--executive summary
@ast
Newborn screening: toward a uniform screening panel and system--executive summary
@en
Newborn screening: toward a uniform screening panel and system--executive summary
@nl
prefLabel
Newborn screening: toward a uniform screening panel and system--executive summary
@ast
Newborn screening: toward a uniform screening panel and system--executive summary
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Newborn screening: toward a uniform screening panel and system--executive summary
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P3181
P1433
P1476
Newborn screening: toward a uniform screening panel and system--executive summary
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P304
P3181
P356
10.1542/PEDS.2005-2633I
10.1542/PEDS.2006-1566
P407
P433
P577
2006-05-01T00:00:00Z