(Q36501343)

14 August 2017

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title

Neonatal screening for glutaric aciduria type I: strategies to proceed (English)

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14 August 2017

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Lindner M

1

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14 August 2017

Ho S

2

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14 August 2017

Fang-Hoffmann J

3

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14 August 2017

Hoffmann GF

4

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14 August 2017

Kölker S

5

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14 August 2017

publication date

1 April 2006

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Journal of Inherited Metabolic Disease

14 August 2017

published in

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14 August 2017

volume

29

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14 August 2017

issue

2-3

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14 August 2017

page(s)

378-382

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0284-1

14 August 2017

exact match

0 references

cites work

Emergency treatment in glutaryl-CoA dehydrogenase deficiency

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12 December 2020

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

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12 December 2020

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

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12 December 2020

Glutaric aciduria. A "common" metabolic disorder?

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12 December 2020

Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration

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12 December 2020

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

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12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

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12 December 2020

Stability of malonylcarnitine and glutarylcarnitine in stored blood spots

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12 December 2020

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

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12 December 2020

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

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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

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed

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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

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12 December 2020

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

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12 December 2020

Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype

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12 December 2020

Glutaric aciduria type I: outcome in the Republic of Ireland

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12 December 2020

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

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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

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

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12 December 2020

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

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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

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

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

1 reference

12 December 2020

Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening

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12 December 2020

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

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12 December 2020

Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.

1 reference

12 December 2020

10.1007/S10545-006-0284-1

Identifiers

DOI

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14 August 2017

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