(Q40559138)

21 September 2017

title

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

1 reference

very long chain acyl-CoA dehydrogenase deficiency

21 September 2017

main subject

0 references

4

Ronald Wanders

1 reference

21 September 2017

Ute Spiekerkoetter

1

1 reference

21 September 2017

Bin Sun

2

1 reference

21 September 2017

Thomas Zytkovicz

3

1 reference

21 September 2017

Udo Wendel

6

1 reference

21 September 2017

Ronald Wanders

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14517516

15 March 2024

Arnold W. Strauss

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14517516

15 March 2024

language of work or name

English

0 references

publication date

1 September 2003

1 reference

full work available at URL

21 September 2017

https://api.elsevier.com/content/article/PII:S0022347603002920?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1067/S0022-3476(03)00292-0

https://api.elsevier.com/content/article/PII:S0022347603002920?httpAccept=text/plain

15 March 2024

1 reference

https://api.crossref.org/works/10.1067/S0022-3476(03)00292-0

The Journal of Pediatrics

15 March 2024

published in

1 reference

21 September 2017

volume

143

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21 September 2017

issue

3

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21 September 2017

page(s)

335-342

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

21 September 2017

cites work

1

1 reference

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Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death

15 March 2024

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Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

15 March 2024

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Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

15 March 2024

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Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl

15 March 2024

5

1 reference

https://api.crossref.org/works/10.1067/S0022-3476(03)00292-0

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency

15 March 2024

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1 reference

https://api.crossref.org/works/10.1067/S0022-3476(03)00292-0

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

15 March 2024

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Medicine. Fast technology drives new world of newborn screening

15 March 2024

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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

15 March 2024

12

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https://api.crossref.org/works/10.1067/S0022-3476(03)00292-0

Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

15 March 2024

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Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card

15 March 2024

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Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood

15 March 2024

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Disorders of mitochondrial fatty acyl-CoA beta-oxidation

15 March 2024

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Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity

15 March 2024

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Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene

15 March 2024

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Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate

15 March 2024

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Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

15 March 2024

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Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency.

15 March 2024

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Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life

15 March 2024

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Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders

15 March 2024

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Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.

15 March 2024

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Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

15 March 2024

26

1 reference

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Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy

15 March 2024

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1 reference

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Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

15 March 2024

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15 March 2024

Identifiers

1 reference

21 September 2017

1 reference