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Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency
scientific article published on 01 February 2000
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
title
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
main subject
heterogeneity
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author
Federica Invernizzi
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Eleonora Lamantea
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Barbara Garavaglia
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Franco Taroni
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
author name string
R Pons
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
P Cavadini
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
S Baratta
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
publication date
1 February 2000
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
published in
Pediatric Neurology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
volume
22
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
page(s)
98-105
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
cites work
beta-oxidation of fatty acids in mitochondria, peroxisomes, and bacteria: a century of continued progress
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disorders of mitochondrial long-chain fatty acid oxidation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis of mitochondrial fatty acid oxidation defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complementation analysis of fatty acid oxidation disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defect in fatty acid oxidation: laboratory and pathologic findings in a patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection and assessment by positron emission tomography of a genetically determined defect in myocardial fatty acid utilization (long-chain acyl-CoA dehydrogenase deficiency)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acidβ-oxidation intermediates on mitochondrial oxidative phosphorylation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900132-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0887-8994(99)00132-0
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PubMed publication ID
10738914
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10738914
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10738914%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
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