(Q37767907)

22 August 2017

title

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening (English)

1 reference

22 August 2017

Roman Yusupov

1

1 reference

22 August 2017

David N Finegold

2

1 reference

22 August 2017

Edwin W Naylor

3

1 reference

22 August 2017

Inderneel Sahai

4

1 reference

22 August 2017

Susan Waisbren

5

1 reference

22 August 2017

Harvey L Levy

6

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22 August 2017

publication date

9 June 2010

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Molecular Genetics and Metabolism

22 August 2017

published in

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22 August 2017

volume

101

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22 August 2017

issue

1

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22 August 2017

page(s)

33-39

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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.

22 August 2017

cites work

1 reference

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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

7 January 2021

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Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome

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

7 January 2021

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

7 January 2021

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Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling

7 January 2021

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Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

7 January 2021

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Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro

7 January 2021

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Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings

7 January 2021

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Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency

7 January 2021

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Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

7 January 2021

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Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

7 January 2021

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

7 January 2021

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

7 January 2021

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Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child.

7 January 2021

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7 January 2021

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7 January 2021

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Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

7 January 2021

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Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria

7 January 2021

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Prospective study of early neonatal screening for phenylketonuria

7 January 2021

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Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies

7 January 2021

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Congenital adrenal hyperplasia.

7 January 2021

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Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.007

Fatty Liver, Encephalopathy, and Sudden Unexpected Death in Early Childhood Due to Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.007

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.007

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2010.05.007

1 reference

22 August 2017

1 reference