(Q33688350)

28 July 2017

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title

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

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28 July 2017

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Hoffmann GF

1

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28 July 2017

Zschocke J

series ordinal

2

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28 July 2017

publication date

1 June 1999

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Journal of Inherited Metabolic Disease

28 July 2017

published in

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28 July 2017

volume

22

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28 July 2017

issue

4

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28 July 2017

page(s)

381-391

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Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

28 July 2017

cites work

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12 December 2020

Glutaric aciduria type I: Unusual biochemical presentation

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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

Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Glutaric aciduria. 1 new case

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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

3-Nitropropionic acid exacerbates N-methyl-D-aspartate toxicity in striatal culture by multiple mechanisms.

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12 December 2020

3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro.

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12 December 2020

Developmental and regional expression in the rat brain and functional properties of four NMDA receptors

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12 December 2020

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

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12 December 2020

Acute profound dystonia in infants with glutaric acidemia.

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12 December 2020

Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds

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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

Glutaric aciduria: biochemical and morphologic considerations

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12 December 2020

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish

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12 December 2020

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

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12 December 2020

Diagnosis and management of glutaric aciduria type I.

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12 December 2020

Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase

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12 December 2020

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

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12 December 2020

Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

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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

Susceptibility to apoptosis is enhanced in immature cortical neurons

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12 December 2020

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

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12 December 2020

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy

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12 December 2020

Identifiers

DOI

10.1023/A:1005543904484

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Dimensions Publication ID

28 July 2017

1039937429

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