(Q45238245)

11 December 2017

title

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. (English)

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11 December 2017

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Tortorelli S

1

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11 December 2017

Hahn SH

2

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11 December 2017

Cowan TM

3

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11 December 2017

Brewster TG

4

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11 December 2017

Rinaldo P

5

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11 December 2017

Matern D

6

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11 December 2017

publication date

19 November 2004

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Molecular Genetics and Metabolism

11 December 2017

published in

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11 December 2017

volume

84

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11 December 2017

issue

2

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11 December 2017

page(s)

137-143

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Type I glutaric aciduria, part 1: natural history of 77 patients

11 December 2017

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Type I glutaric aciduria, part 2: a model of acute striatal necrosis

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Diagnosis and management of glutaric aciduria type I.

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Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria

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

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

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Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania

7 January 2021

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A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I

7 January 2021

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Octenylsuccinic Aciduria in Children Fed Protein-Hydrolysate Formulas Containing Modified Cornstarch

7 January 2021

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Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder

7 January 2021

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Glutaric aciduria type III: a distinctive non-disease?

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Carnitine plasma concentrations in 353 metabolically healthy children.

7 January 2021

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7 January 2021

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

7 January 2021

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Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

7 January 2021

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7 January 2021

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Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.

7 January 2021

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7 January 2021

Identifiers

DOI

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11 December 2017

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