(Q35927918)

11 August 2017

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title

Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency (English)

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11 August 2017

Kölker S

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11 August 2017

Burgard P

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11 August 2017

Okun JG

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11 August 2017

Schulze-Bergkamen A

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11 August 2017

Assmann B

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11 August 2017

Greenberg CR

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11 August 2017

Hoffmann GF

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11 August 2017

publication date

1 January 2004

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Journal of Inherited Metabolic Disease

11 August 2017

published in

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11 August 2017

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11 August 2017

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11 August 2017

page(s)

921-926

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Emergency treatment in glutaryl-CoA dehydrogenase deficiency

11 August 2017

cites work

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12 December 2020

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

1 reference

12 December 2020

Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1.

1 reference

12 December 2020

Mutation analysis in glutaric aciduria type I.

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12 December 2020

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations

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12 December 2020

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada

1 reference

12 December 2020

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

1 reference

12 December 2020

Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

1 reference

12 December 2020

Nutrition support for glutaric acidemia type I.

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12 December 2020

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

1 reference

12 December 2020

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

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12 December 2020

A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus

1 reference

12 December 2020

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.

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12 December 2020

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

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12 December 2020

Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency

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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

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12 December 2020

Glutaric aciduria; A “new” disorder of amino acid metabolism

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12 December 2020

Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

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12 December 2020

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

1 reference

12 December 2020

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).

1 reference

12 December 2020

10.1023/B:BOLI.0000045778.73581.7D

Identifiers

DOI

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Dimensions Publication ID

11 August 2017

1005381553

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