(Q35146643)

6 August 2017

title

Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism (English)

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succinic semialdehyde dehydrogenase deficiency

6 August 2017

main subject

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author name string

Kara R Vogel

1

1 reference

6 August 2017

Phillip L Pearl

2

1 reference

6 August 2017

William H Theodore

3

1 reference

6 August 2017

Robert C McCarter

4

1 reference

6 August 2017

Cornelis Jakobs

5

1 reference

6 August 2017

K Michael Gibson

6

1 reference

6 August 2017

publication date

28 June 2012

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Journal of Inherited Metabolic Disease

6 August 2017

published in

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6 August 2017

volume

36

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6 August 2017

issue

3

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6 August 2017

page(s)

401-410

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

6 August 2017

cites work

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13 July 2018

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Inhibition of alanine aminotransferase in silico and in vivo promotes mitochondrial metabolism to impair malignant growth

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

13 July 2018

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Inhibition of the PLP-dependent enzyme serine palmitoyltransferase by cycloserine: evidence for a novel decarboxylative mechanism of inactivation

13 July 2018

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A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

13 July 2018

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Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.

13 July 2018

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Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men

13 July 2018

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The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) mice

13 July 2018

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Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

13 July 2018

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13 July 2018

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Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

13 July 2018

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Function of taurine transporter (Slc6a6/TauT) as a GABA transporting protein and its relevance to GABA transport in rat retinal capillary endothelial cells

13 July 2018

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A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype

13 July 2018

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Effect of L-cycloserine on cellular responses mediated by macrophages and T cells

13 July 2018

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13 July 2018

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

13 July 2018

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Carnosine and related dipeptides as quenchers of reactive carbonyl species: from structural studies to therapeutic perspectives.

13 July 2018

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GABAB receptor: a site of therapeutic benefit

13 July 2018

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Carnosine and homocarnosine, the forgotten, enigmatic peptides of the brain

13 July 2018

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Gamma-hydroxybutyric acid

13 July 2018

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13 July 2018

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SGS742: the first GABA(B) receptor antagonist in clinical trials

13 July 2018

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Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency

13 July 2018

1 reference

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Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.

13 July 2018

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From the street to the brain: neurobiology of the recreational drug gamma-hydroxybutyric acid

13 July 2018

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Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency

13 July 2018

1 reference

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Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydrogenase (ALDH5A)

13 July 2018

1 reference

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Interactions between taurine and ethanol in the central nervous system.

13 July 2018

1 reference

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Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

13 July 2018

1 reference

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Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria)

13 July 2018

1 reference

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Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

13 July 2018

1 reference

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Neurotransmitters and neuromodulators during early human development.

13 July 2018

1 reference

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Visual field defects and other ophthalmological disturbances associated with vigabatrin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Evidence for a G protein-coupled gamma-hydroxybutyric acid receptor

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Effect of long-term vigabatrin administration on the immature rat brain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

The GABA paradox: multiple roles as metabolite, neurotransmitter, and neurodifferentiative agent

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Inhibition of glutamate decarboxylase activity by 3-mercaptopropionic acid has different time course in the immature and adult rat brains

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

The gamma-hydroxybutyrate signalling system in brain: organization and functional implications.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Gamma-aminobutyric acid (GABA) metabolism in mammalian neural and nonneural tissues

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

L-cycloserine: behavioural and biochemical effects after single and repeated administration to mice, rats and cats

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Diazepam antagonizes GABAmimetics in rats with spontaneous petit mal-like epilepsy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Interrelationships between ornithine, glutamate, and GABA. II. Consequences of inhibition of GABA-T and ornithine aminotransferase in brain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

The effect of 3-mercaptopropionate, an inhibitor of glutamate decarboxylase, on the levels of GABA and other amino acids, and on presynaptic inhibition in the rat cuneate nucleus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Gamma hydroxybutyrate in the monkey: I. Electroencephalographic, behavioral, and pharmacokinetic studies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Reduced parietal activation in cervical dystonia after parietal TMS interleaved with fMRI.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Excitatory GABA in rodent developing neocortex in vitro

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Taurine-transporter gene knockout-induced changes in GABA(A), kainate and AMPA but not NMDA receptor binding in mouse brain

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Taurine prevents the neurotoxicity of beta-amyloid and glutamate receptor agonists: activation of GABA receptors and possible implications for Alzheimer's disease and other neurological disorders

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Visual field constriction in 91 Finnish children treated with vigabatrin

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Vigabatrin-associated retinal cone system dysfunction: electroretinogram and ophthalmologic findings

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349389

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-012-9499-5

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

21 January 2018

1 reference

12 December 2020

Mechanism of inactivation and identification of sites of modification of ornithine aminotransferase by 4-aminohex-5-ynoate

1 reference

12 December 2020

4-Hydroxybutyric aciduria

1 reference

12 December 2020

MRI findings in succinic semialdehyde dehydrogenase deficiency

1 reference

12 December 2020

A study of the effects of vigabatrin on the central nervous system and retina of Sprague Dawley and Lister-Hooded rats

1 reference

12 December 2020

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

1 reference

12 December 2020

Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria

1 reference

12 December 2020

Use of ex vivo magnetic resonance imaging to detect onset of vigabatrin-induced intramyelinic edema in canine brain

1 reference

12 December 2020

Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues

1 reference

12 December 2020

Vigabatrin in GABA metabolism disorders

1 reference

12 December 2020

10.1007/S10545-012-9499-5

Identifiers

DOI

1 reference

6 August 2017

1 reference

6 August 2017

1 reference