(Q48092089)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661081%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Outcome of three cases of untreated maternal glutaric aciduria type I (English)

1 reference

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2 January 2020

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2

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2 January 2020

Luísa Diogo

3

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2 January 2020

Clara Barbot

10

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2 January 2020

author name string

Paula Garcia

1

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2 January 2020

Hugo Rocha

4

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2 January 2020

Ana Marcão

5

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2 January 2020

Eurico Gaspar

6

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2 January 2020

Margarida Almeida

7

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2 January 2020

Catarina Vaz

8

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2 January 2020

Isabel Soares

9

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2 January 2020

Laura Vilarinho

11

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2 January 2020

publication date

28 July 2007

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European Journal of Pediatrics

2 January 2020

published in

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2 January 2020

volume

167

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2 January 2020

issue

5

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2 January 2020

page(s)

569-573

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https://scigraph.springernature.com/pub.10.1007/s00431-007-0556-2

2 January 2020

exact match

0 references

cites work

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

Biological roles of L-carnitine in perinatal metabolism.

1 reference

12 December 2020

Pregnancy issues in inherited metabolic disorders

1 reference

12 December 2020

Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-Chain Fatty Acid Oxidation during Early Human Development

1 reference

12 December 2020

Case Report: Second case of a successful pregnancy in maternal isovaleric acidaemia

1 reference

12 December 2020

L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism

1 reference

12 December 2020

Historical background for the maternal PKU syndrome.

1 reference

12 December 2020

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

1 reference

12 December 2020

Carnitine concentration during the development of human tissues.

1 reference

12 December 2020

Glutaric aciduria; A “new” disorder of amino acid metabolism

1 reference

12 December 2020

Antiepileptic drug use of women with epilepsy and congenital malformations in offspring

1 reference

12 December 2020

Neonatal screening for glutaric aciduria type I: strategies to proceed

1 reference

12 December 2020

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.

1 reference

12 December 2020

10.1007/S00431-007-0556-2

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661081%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

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