(Q35568104)

8 August 2017

1 reference

title

Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution (English)

1 reference

8 August 2017

Glutaric aciduria type 1 and neonatal screening: time to proceed?with caution (English)

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00431-003-1344-2

25 March 2024

main subject

glutaric aciduria type 1

1 reference

1

Andrea Superti-Furga

0 references

language of work or name

1 reference

25 October 2003

1 reference

full work available at URL

8 August 2017

https://serval.unil.ch/resource/serval:BIB_29685.P001/REF.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14579152

http://link.springer.com/content/pdf/10.1007/s00431-003-1344-2.pdf

25 March 2024

file format

Portable Document Format

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00431-003-1344-2

http://link.springer.com/article/10.1007/s00431-003-1344-2/fulltext.html

25 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00431-003-1344-2

http://link.springer.com/content/pdf/10.1007/s00431-003-1344-2

25 March 2024

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00431-003-1344-2

European Journal of Pediatrics

25 March 2024

published in

1 reference

8 August 2017

volume

162 Suppl 1

1 reference

8 August 2017

page(s)

S17-20

1 reference

https://scigraph.springernature.com/pub.10.1007/s00431-003-1344-2

8 August 2017

exact match

0 references

cites work

CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients

1 reference

12 December 2020

Subdural hematoma and glutaric aciduria type 1

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Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)

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

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A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.

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12 December 2020

Natural history of glutaric aciduria type 1.

1 reference

12 December 2020

Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1 (GAT1); operation without knowing that may be harmful

1 reference

12 December 2020

Glutaric aciduria type 1: MR findings in two cases.

1 reference

12 December 2020

Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons

1 reference

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

1 reference

12 December 2020

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.

1 reference

12 December 2020

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

1 reference

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Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria 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

Subdural haematoma in a child with glutaric aciduria type I

1 reference

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Resource allocation, social values and the QALY: a review of the debate and empirical evidence

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

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Cost-effectiveness analysis and emergency medical services for children: issues and applications

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Diagnosis and management of glutaric aciduria type I.

1 reference

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Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.

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Principles and practice of mass screening for disease

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Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1.

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The global burden of disease, 1990–2020

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12 December 2020

Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency

1 reference

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Glutaric aciduria type I: pathomechanisms of neurodegeneration.

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

Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue

1 reference

12 December 2020

Glutaric aciduria type I. Brain CT features and a diagnostic pitfall

1 reference

12 December 2020

Glutaric aciduria in two brothers

1 reference

12 December 2020

Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons

1 reference

12 December 2020

Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

1 reference

12 December 2020

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

1 reference

12 December 2020

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy

1 reference

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

Identifiers

1 reference

8 August 2017

1 reference