(Q47699817)

4 February 2018

review article

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title

Diagnosis and management of glutaric aciduria type I. (English)

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4 February 2018

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I Barić

1

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4 February 2018

J Zschocke

2

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4 February 2018

E Christensen

3

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4 February 2018

M Duran

4

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4 February 2018

S I Goodman

5

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4 February 2018

J V Leonard

6

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4 February 2018

E Müller

7

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4 February 2018

D H Morton

8

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4 February 2018

A Superti-Furga

9

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4 February 2018

G F Hoffmann

10

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4 February 2018

publication date

1 June 1998

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4 February 2018

Journal of Inherited Metabolic Disease

published in

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4 February 2018

volume

21

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4 February 2018

issue

4

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4 February 2018

page(s)

326-340

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4 February 2018

Glutaric aciduria. A "common" metabolic disorder?

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Glutaric aciduria type I: Unusual biochemical presentation

1 reference

12 December 2020

Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1.

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

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

1 reference

12 December 2020

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations

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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

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

1 reference

12 December 2020

Significance of bound glutarate in the diagnosis of glutaric aciduria type I

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12 December 2020

Nutrition support for glutaric acidemia type I.

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

Acute profound dystonia in infants with glutaric acidemia.

1 reference

12 December 2020

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

1 reference

12 December 2020

A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings

1 reference

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

1 reference

12 December 2020

Glutaric aciduria type I in the Arab and Jewish communities in Israel

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; A “new” disorder of amino acid metabolism

1 reference

12 December 2020

Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting

1 reference

12 December 2020

Intercurrent illness in inborn errors of intermediary metabolism

1 reference

12 December 2020

Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling

1 reference

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

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005390105171

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4 February 2018

Dimensions Publication ID

1031066152

0 references

1 reference

4 February 2018