Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. (Q42130066)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430864%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency (English)

1 reference

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succinic semialdehyde dehydrogenase deficiency

24 February 2020

main subject

0 references

author

Elena Moretti

4

1 reference

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24 February 2020

Roberta Battini

8

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24 February 2020

author name string

M Casarano

1

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24 February 2020

M G Alessandrì

2

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24 February 2020

G S Salomons

3

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24 February 2020

C Jakobs

5

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24 February 2020

K M Gibson

6

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24 February 2020

G Cioni

7

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24 February 2020

publication date

6 September 2011

1 reference

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Journal of Inherited Metabolic Disorders Reports

24 February 2020

published in

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24 February 2020

volume

2

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24 February 2020

page(s)

119-123

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Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance

24 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Is reduced ornithine-δ-aminotransferase activity the cause of vigabatrin-associated visual field defects?

29 May 2018

1 reference

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Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Succinic semialdehyde dehydrogenase deficiency in children and adults

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Monitoring of 4‐hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509850

Vigabatrin in GABA metabolism disorders

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430864

12 December 2020

inferred from PubMed ID database lookup

Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430864

12 December 2020

inferred from PubMed ID database lookup

Vigabatrin-associated retinal cone system dysfunction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430864

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/8904_2011_60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430864%20AND%20SRC:MED&resulttype=core&format=json

release_k2nl43frwjca7chep474liufs4

24 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/k2nl43frwjca7chep474liufs4

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430864%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

23430864

1 reference