(Q48109528)

8 February 2018

title

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany (English)

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8 February 2018

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Chris Mühlhausen

6

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author name string

Stefan Kölker

1

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8 February 2018

Sven F Garbade

2

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8 February 2018

Nikolas Boy

3

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8 February 2018

Esther M Maier

4

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8 February 2018

Thomas Meissner

5

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8 February 2018

Julia B Hennermann

7

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8 February 2018

Thomas Lücke

8

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8 February 2018

Johannes Häberle

9

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8 February 2018

Jochen Baumkötter

10

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8 February 2018

Wolfram Haller

11

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8 February 2018

Edith Muller

12

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8 February 2018

Johannes Zschocke

13

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8 February 2018

Peter Burgard

14

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8 February 2018

Georg F Hoffmann

15

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8 February 2018

language of work or name

English

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publication date

1 September 2007

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8 February 2018

published in

Pediatric Research

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8 February 2018

volume

62

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8 February 2018

issue

3

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8 February 2018

page(s)

357-363

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8 February 2018

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

cites work

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Mutation analysis in glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Glutaric aciduria type I: outcome in the Republic of Ireland

21 January 2018

1 reference

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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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Neonatal screening for glutaric aciduria type I: strategies to proceed

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E318137A124

Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben

21 January 2018

1 reference

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10.1203/PDR.0B013E318137A124

21 January 2018

Identifiers

DOI

1 reference

8 February 2018

Dimensions Publication ID

1037122728

0 references

Fatcat ID

release_grprnb74gvbqdhd4e6pqamcxku

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/grprnb74gvbqdhd4e6pqamcxku

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

8 February 2018