(Q44433461)

2 December 2017

title

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

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2 December 2017

4

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2 December 2017

Dwight D Koeberl

1

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2 December 2017

Sarah P Young

2

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2 December 2017

Niels S Gregersen

3

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2 December 2017

Wendy E Smith

5

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2 December 2017

Daniel Kelly Benjamin

6

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2 December 2017

Yan An

7

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2 December 2017

Susan D Weavil

8

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2 December 2017

Shu H Chaing

9

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2 December 2017

Deeksha Bali

10

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2 December 2017

Marie T McDonald

11

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2 December 2017

Priya S Kishnani

12

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2 December 2017

Y-T Chen

13

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2 December 2017

David S Millington

14

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2 December 2017

language of work or name

English

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publication date

7 May 2003

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2 December 2017

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2 December 2017

volume

54

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2 December 2017

issue

2

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2 December 2017

page(s)

219-223

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Disorders of mitochondrial fatty acyl-CoA beta-oxidation

2 December 2017

cites work

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https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

Cloning and characterization of the mouse short-chain acyl-CoA dehydrogenase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000074972.36356.89

10.1203/01.PDR.0000074972.36356.89

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

2 December 2017

1038049880

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1 reference