(Q44042375)

29 November 2017

title

Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome (English)

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29 November 2017

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6

Joy Yaplito-Lee

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29 November 2017

Avihu Boneh

1

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29 November 2017

Miriam Beauchamp

2

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29 November 2017

Maureen Humphrey

3

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29 November 2017

Jemma Watkins

4

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29 November 2017

Heidi Peters

5

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29 November 2017

publication date

14 April 2008

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Molecular Genetics and Metabolism

29 November 2017

published in

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29 November 2017

volume

94

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29 November 2017

issue

3

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29 November 2017

page(s)

287-291

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Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

29 November 2017

cites work

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

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The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier.

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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.

7 January 2021

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Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

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Emergency treatment in glutaryl-CoA dehydrogenase deficiency

7 January 2021

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Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency

7 January 2021

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Behavior rating inventory of executive function

7 January 2021

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Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type I.

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Early detection of glutaric aciduria type I by newborn screening in Taiwan.

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

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Glutaric aciduria type I: outcome in the Republic of Ireland

7 January 2021

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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

7 January 2021

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Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options

7 January 2021

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Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

7 January 2021

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Using neuropsychological profiles to classify neglected children with or without physical abuse.

7 January 2021

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7 January 2021

Identifiers

DOI

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29 November 2017

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