Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency (Q33926724)

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29 January 2020

title

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency (English)

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29 January 2020

2

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29 January 2020

Carlo Dionisi-Vici

4

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29 January 2020

author name string

G Di Rosa

1

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29 January 2020

P Blasi

3

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29 January 2020

C Rizzo

5

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29 January 2020

G Tortorella

6

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29 January 2020

S R Crutchfield

7

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29 January 2020

K M Gibson

8

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29 January 2020

publication date

30 May 2009

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Journal of Inherited Metabolic Disease

29 January 2020

published in

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29 January 2020

volume

32 Suppl 1

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29 January 2020

page(s)

S201-5

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'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.

29 January 2020

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

5 July 2018

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Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria)

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Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms

5 July 2018

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Visual field defects associated with vigabatrin therapy

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4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

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Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-o

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Effects of high-dose gamma-vinyl GABA (vigabatrin) administration on visual and somatosensory evoked potentials in dogs

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Comparative symptomatological and evoked potential studies with d-amphetamine, thioridazine, and placebo in hyperkinetic children

5 July 2018

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Sensory evoked potentials in Wilson's disease

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21 January 2018

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21 January 2018

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Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms

21 January 2018

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Different combinations of GABAA and GABAC receptors confer distinct temporal properties to retinal synaptic responses

21 January 2018

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Evaluation of cerebral function in newborn infants with fetal growth retardation

29 October 2018

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29 October 2018

Identifiers

DOI

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Dimensions Publication ID

29 January 2020

0 references

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29 January 2020

PubMed publication ID

19484191

1 reference