(Q44064409)

29 November 2017

title

3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing (English)

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29 November 2017

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J Pitt

1

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29 November 2017

K Carpenter

series ordinal

2

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29 November 2017

B Wilcken

series ordinal

3

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29 November 2017

A Boneh

series ordinal

4

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29 November 2017

publication date

1 May 2002

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Journal of Inherited Metabolic Disease

29 November 2017

published in

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29 November 2017

volume

25

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29 November 2017

issue

2

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29 November 2017

page(s)

83-88

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https://scigraph.springernature.com/pub.10.1023/a:1015654608166

29 November 2017

exact match

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cites work

The occurrence of 2-hydroxyisovaleric acid in patients with lactic acidosis and ketoacidosis

1 reference

12 December 2020

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

1 reference

12 December 2020

Mutation analysis in glutaric aciduria type I.

1 reference

12 December 2020

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria

1 reference

12 December 2020

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

1 reference

12 December 2020

Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy

1 reference

12 December 2020

Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria

1 reference

12 December 2020

Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis

1 reference

12 December 2020

Diagnosis and management of glutaric aciduria type I.

1 reference

12 December 2020

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

1 reference

12 December 2020

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity

1 reference

12 December 2020

The occurrence of adipic and suberic acid in urine from ketotic patients

1 reference

12 December 2020

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1015654608166

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Dimensions Publication ID

29 November 2017

1029861545

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