(Q36501339)

14 August 2017

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title

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective (English)

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medium chain acyl-CoA dehydrogenase deficiency

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main subject

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author name string

William J Rhead

series ordinal

1

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14 August 2017

publication date

1 April 2006

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Journal of Inherited Metabolic Disease

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published in

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14 August 2017

volume

29

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issue

2-3

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14 August 2017

page(s)

370-377

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0292-1

14 August 2017

exact match

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cites work

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

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12 December 2020

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

1 reference

12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

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12 December 2020

Data required for the evaluation of newborn screening programmes

1 reference

12 December 2020

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

12 December 2020

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

1 reference

12 December 2020

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.

1 reference

12 December 2020

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

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12 December 2020

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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12 December 2020

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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12 December 2020

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

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12 December 2020

10.1007/S10545-006-0292-1

Identifiers

DOI

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14 August 2017

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