The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family (Q44826656)

6 December 2017

title

The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family (English)

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succinic semialdehyde dehydrogenase deficiency

6 December 2017

main subject

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author name string

Bekri S

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6 December 2017

Fossoud C

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6 December 2017

Plaza G

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6 December 2017

Guenne A

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6 December 2017

Salomons GS

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6 December 2017

Jakobs C

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6 December 2017

Van Obberghen E

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6 December 2017

publication date

1 April 2004

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Molecular Genetics and Metabolism

6 December 2017

published in

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6 December 2017

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6 December 2017

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6 December 2017

page(s)

347-351

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Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

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cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Succinic semialdehyde dehydrogenase deficiency in children and adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

GABA, gamma-hydroxybutyric acid, and neurological disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Elevation of AKR7A2 (succinic semialdehyde reductase) in neurodegenerative disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Gamma-hydroxybutyrate is a weak agonist at recombinant GABA(B) receptors.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Pathway-specific action of gamma-hydroxybutyric acid in sensory thalamus and its relevance to absence seizures.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Murine succinate semialdehyde dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Genome sequence of enterohaemorrhagic Escherichia coli O157:H7

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Aldehyde dehydrogenases: widespread structural and functional diversity within a shared framework

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

Oxidative alterations in Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.012

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2004.01.012

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6 December 2017

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