Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency (Q28236716)

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20 January 2020

title

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

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20 January 2020

2

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20 January 2020

Allan M Lund

8

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20 January 2020

10

Moacir Wajner

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20 January 2020

author name string

Stefan Kölker

1

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20 January 2020

Cheryl R Greenberg

3

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20 January 2020

James V Leonard

4

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20 January 2020

Jean-Marie Saudubray

5

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20 January 2020

Antonia Ribes

6

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20 January 2020

H Serap Kalkanoglu

7

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20 January 2020

Begoña Merinero

9

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20 January 2020

Mónica Troncoso

11

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20 January 2020

Monique Williams

12

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20 January 2020

John H Walter

13

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20 January 2020

Jaume Campistol

14

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20 January 2020

Milagros Martí-Herrero

15

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20 January 2020

Melissa Caswill

16

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20 January 2020

Alberto B Burlina

17

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Florian Lagler

18

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20 January 2020

Esther M Maier

19

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20 January 2020

Bernd Schwahn

20

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20 January 2020

Aysegul Tokatli

21

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20 January 2020

Ali Dursun

22

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20 January 2020

Turgay Coskun

23

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20 January 2020

Ronald A Chalmers

24

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20 January 2020

David M Koeller

25

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20 January 2020

Johannes Zschocke

26

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20 January 2020

Ernst Christensen

27

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20 January 2020

Peter Burgard

28

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20 January 2020

Georg F Hoffmann

29

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language of work or name

English

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publication date

26 April 2006

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20 January 2020

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20 January 2020

volume

59

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20 January 2020

page(s)

840-847

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issue

6

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Neonatal screening for glutaryl-CoA dehydrogenase deficiency

20 January 2020

cites work

1 reference

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

21 January 2018

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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

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

21 January 2018

1 reference

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Mutation analysis in glutaric aciduria type I.

21 January 2018

1 reference

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Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

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Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions

21 January 2018

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Glutaric aciduria: biochemical and morphologic considerations.

21 January 2018

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Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 January 2018

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

21 January 2018

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

21 January 2018

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Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

21 January 2018

1 reference

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Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

21 January 2018

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Emergency treatment in glutaryl-CoA dehydrogenase deficiency

21 January 2018

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Glutaric aciduria type I: outcome in the Republic of Ireland

21 January 2018

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Type I glutaric aciduria, part 2: a model of acute striatal necrosis

21 January 2018

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Life expectancy of children with cerebral palsy

21 January 2018

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Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

21 January 2018

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Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.

21 January 2018

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Glutaric aciduria type 1: biochemical investigations and postmortem findings.

21 January 2018

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Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

21 January 2018

1 reference

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Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

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Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

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10.1203/01.PDR.0000219387.79887.86

21 January 2018

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

1187829

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641220%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 January 2020

1030369999

0 references

1187829

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1187829

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16641220%20AND%20SRC:MED&resulttype=core&format=json