(Q36753404)

16 August 2017

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title

Recent advances in newborn screening (English)

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16 August 2017

Wilcken B

1

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16 August 2017

6 March 2007

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Journal of Inherited Metabolic Disease

16 August 2017

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16 August 2017

30

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16 August 2017

129-133

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16 August 2017

2

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https://scigraph.springernature.com/pub.10.1007/s10545-007-0538-6

16 August 2017

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Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

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Mini-symposium: newborn screening for inborn errors of metabolism--clinical effectiveness

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Common pitfalls in the evaluation of developmental screening tests

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12 December 2020

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The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005

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Newborn screening: toward a uniform screening panel and system--executive summary

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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

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Introduction to the newborn screening fact sheets

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Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria

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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

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12 December 2020

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12 December 2020

Quantitative determination of plasma phenylalanine and tyrosine by electrospray ionization tandem mass spectrometry

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VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

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Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

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Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

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Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

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Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies

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Newborn screening may fail to identify intermediate forms of maple syrup urine disease

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The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.

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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

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Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.

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Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects

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Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

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12 December 2020

10.1007/S10545-007-0538-6

Identifiers

DOI

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16 August 2017

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PubMed ID

17342450