(Q35558483)

8 August 2017

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

1 reference

very long chain acyl-CoA dehydrogenase deficiency

8 August 2017

0 references

Can Ficicioglu

8

0 references

author name string

Georgianne L Arnold

1

1 reference

8 August 2017

Johan Van Hove

2

1 reference

8 August 2017

Debra Freedenberg

3

1 reference

8 August 2017

Arnold Strauss

4

1 reference

8 August 2017

Nicola Longo

5

1 reference

8 August 2017

Barbara Burton

6

1 reference

8 August 2017

Cheryl Garganta

7

1 reference

8 August 2017

Stephen Cederbaum

9

1 reference

8 August 2017

Cary Harding

10

1 reference

8 August 2017

Richard G Boles

11

1 reference

8 August 2017

Dietrich Matern

12

1 reference

8 August 2017

Pranesh Chakraborty

13

1 reference

8 August 2017

Annette Feigenbaum

14

1 reference

8 August 2017

20 January 2009

1 reference

Molecular Genetics and Metabolism

8 August 2017

1 reference

8 August 2017

96

1 reference

8 August 2017

3

1 reference

8 August 2017

85-90

1 reference

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

The Delphi technique: myths and realities

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

Consensus development methods, and their use in clinical guideline development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3219055

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

15 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.008

Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.008

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

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19157942

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Acylcarnitine accumulation does not correlate with reperfusion recovery in palmitate-perfused rat hearts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19157942

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2008.09.008

1 reference

8 August 2017

1 reference

8 August 2017

1 reference