Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. (Q43612324)

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7 March 2020

title

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening (English)

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very long chain acyl-CoA dehydrogenase deficiency

7 March 2020

main subject

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author

J Lawrence Merritt

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7 March 2020

8

Cheryl Hermerath

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author name string

Sverre Vedal

2

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7 March 2020

Jose E Abdenur

3

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7 March 2020

Sylvia M Au

4

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7 March 2020

Bruce A Barshop

5

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Lisa Feuchtbaum

6

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Cary O Harding

7

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Fred Lorey

9

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David E Sesser

10

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John D Thompson

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Arthur Yu

12

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publication date

23 January 2014

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Molecular Genetics and Metabolism

7 March 2020

published in

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volume

111

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issue

4

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7 March 2020

page(s)

484-492

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Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

7 March 2020

cites work

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Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency

7 January 2021

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Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

7 January 2021

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Efficiency of metabolic screening in childhood cardiomyopathies

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A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults

7 January 2021

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Fatty acid beta-oxidation deficiency masquerading as fulminant myocarditis

7 January 2021

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Newborn screening for metabolic disorders: how are we doing, and where are we going?

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Fatty acid oxidation disorders: outcome and long-term prognosis

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

7 January 2021

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Birth prevalence of disorders detectable through newborn screening by race/ethnicity.

7 January 2021

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Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 January 2021

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

7 January 2021

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

7 January 2021

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MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

7 January 2021

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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

7 January 2021

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Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency

7 January 2021

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Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

7 January 2021

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Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects

7 January 2021

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Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

7 January 2021

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A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen

7 January 2021

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

7 January 2021

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The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings

7 January 2021

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7 January 2021

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7 January 2021

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Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

7 January 2021

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

7 January 2021

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Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels

7 January 2021

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Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.

7 January 2021

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Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing

7 January 2021

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10.1016/J.YMGME.2014.01.009

7 January 2021

Identifiers

DOI

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7 March 2020

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