(Q44624630)

English

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency

scientific article published on November 1, 2003

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scholarly article

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Europe PubMed Central

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4 December 2017

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency (English)

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4 December 2017

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10.1016/J.CCCN.2003.07.006

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23 March 2024

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Dietrich Matern

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4 December 2017

Niels Gregersen

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4 December 2017

Deeksha Bali

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4 December 2017

Hui-Ming Liu

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4 December 2017

Sarah P. Young

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14568186

23 March 2024

Robert D. Stevens

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23 March 2024

Dwight D. Koeberl

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14568186

23 March 2024

David S. Millington

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23 March 2024

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23 March 2024

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1 November 2003

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https://api.elsevier.com/content/article/PII:S000989810300367X?httpAccept=text/xml

1 reference

10.1016/J.CCCN.2003.07.006

https://api.crossref.org/works/10.1016/J.CCCN.2003.07.006

23 March 2024

https://api.elsevier.com/content/article/PII:S000989810300367X?httpAccept=text/plain

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10.1016/J.CCCN.2003.07.006

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23 March 2024

Clinica Chimica Acta

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4 December 2017

337

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4 December 2017

1-2

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4 December 2017

103-113

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4 December 2017

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

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Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

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Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

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A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

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Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

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Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency

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Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

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Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

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Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

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Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

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The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

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Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

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Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme

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Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

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Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

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Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations

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Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders

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Spiropentaneacetic acid as a specific inhibitor of medium-chain acyl-CoA dehydrogenase.

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10.1016/J.CCCN.2003.07.006

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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