(Q37763612)

22 August 2017

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title

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population (English)

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medium chain acyl-CoA dehydrogenase deficiency

22 August 2017

main subject

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author name string

Ulrich A Schatz

series ordinal

1

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22 August 2017

Regina Ensenauer

series ordinal

2

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22 August 2017

publication date

8 June 2010

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Journal of Inherited Metabolic Disease

22 August 2017

published in

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22 August 2017

volume

33

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22 August 2017

issue

5

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22 August 2017

page(s)

513-520

1 reference

Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman.

22 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9115-5

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9115-5

Medium chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

12 December 2020

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

1 reference

12 December 2020

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

12 December 2020

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

1 reference

12 December 2020

Newborn screening for medium chain acyl CoA dehydrogenase deficiency

1 reference

12 December 2020

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

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

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

1 reference

12 December 2020

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

12 December 2020

American College of Sports Medicine position stand. Nutrition and athletic performance

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver

1 reference

12 December 2020

Sudden death beyond SIDS

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

1 reference

12 December 2020

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

1 reference

12 December 2020

Molecular and functional characterisation of mild MCAD deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

1 reference

12 December 2020

More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate

1 reference

12 December 2020

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome

1 reference

12 December 2020

Starvation in human pregnancy: hypoglycemia, hypoinsulinemia, and hyperketonemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population

1 reference

12 December 2020

Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency.

1 reference

12 December 2020

Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Acute liver failure in pregnancy associated with maternal MCAD deficiency

1 reference

12 December 2020

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Economic evaluation of tandem mass spectrometry newborn screening in Australia

1 reference

12 December 2020

Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

1 reference

12 December 2020

Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome.

1 reference

12 December 2020

Binge drinking in childhood and adolescence: epidemiology, consequences, and interventions

1 reference

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

1 reference

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

1 reference

12 December 2020

Effect of endurance training on lipid metabolism in women: a potential role for PPARalpha in the metabolic response to training

1 reference

12 December 2020

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

1 reference

12 December 2020

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

1 reference

12 December 2020

Late presentation of medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10545-010-9115-5

Identifiers

DOI

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release_vkkyfqlcjfbtflajh6ubnwnt6e

22 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/vkkyfqlcjfbtflajh6ubnwnt6e

24 November 2022

mapped directly with Wikidata item

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