(Q55042915)

16 June 2018

title

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

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16 June 2018

medium chain acyl-CoA dehydrogenase deficiency

main subject

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Australia

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author name string

Bridget Wilcken

1

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16 June 2018

Marion Haas

2

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16 June 2018

Pamela Joy

3

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16 June 2018

Veronica Wiley

4

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16 June 2018

Meredyth Chaplin

5

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16 June 2018

Carly Black

6

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16 June 2018

Janice Fletcher

7

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16 June 2018

Jim McGill

8

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16 June 2018

Avihu Boneh

9

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16 June 2018

language of work or name

English

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publication date

1 January 2007

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16 June 2018

published in

The Lancet

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16 June 2018

volume

369

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16 June 2018

issue

9555

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16 June 2018

page(s)

37-42

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16 June 2018

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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Newborn screening compared to clinical identification of biochemical genetic disorders.

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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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7 January 2021

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

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7 January 2021

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

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Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

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7 January 2021

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

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7 January 2021

Medium chain acyl-CoA dehydrogenase deficiency

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7 January 2021

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

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7 January 2021

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

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7 January 2021

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

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7 January 2021

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

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7 January 2021

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.

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7 January 2021

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.

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7 January 2021

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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https://api.crossref.org/works/10.1016%2FS0140-6736%2807%2960029-4

7 January 2021

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

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7 January 2021

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

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7 January 2021

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

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7 January 2021

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

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7 January 2021

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

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Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

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7 January 2021

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification

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7 January 2021

Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies

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7 January 2021

10.1016/S0140-6736(07)60029-4

Identifiers

DOI

1 reference

16 June 2018

1 reference

16 June 2018