(Q34278712)

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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

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scholarly article

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Europe PubMed Central

1 August 2017

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

1 reference

Europe PubMed Central

1 August 2017

Andrea Novelletto

3

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Europe PubMed Central

1 August 2017

Patrizia Malaspina

object named as

Patrizia Malaspina

4

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object named as

Markus Grompe

8

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author name string

Shinjiro Akaboshi

1

1 reference

Europe PubMed Central

1 August 2017

Boris M Hogema

2

1 reference

Europe PubMed Central

1 August 2017

Gajja S Salomons

5

1 reference

Europe PubMed Central

1 August 2017

George D Maropoulos

6

1 reference

Europe PubMed Central

1 August 2017

Cornelis Jakobs

7

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Europe PubMed Central

1 August 2017

K Michael Gibson

9

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Europe PubMed Central

1 August 2017

publication date

1 December 2003

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Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

22

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Europe PubMed Central

1 August 2017

6

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Europe PubMed Central

1 August 2017

442-450

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Europe PubMed Central

1 August 2017

Expression and activities of aldo-keto oxidoreductases in Alzheimer disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

21 January 2018

Human Succinic Semialdehyde Dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

21 January 2018

Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Plant succinic semialdehyde dehydrogenase. Cloning, purification, localization in mitochondria, and regulation by adenine nucleotides.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Purification from human brain and some properties of two NADPH-linked aldehyde reductases which reduce succinic semialdehyde to 4-hydroxybutyrate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

The first adult case with 4-hydroxybutyric aciduria.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Gamma hydroxybutyric acid (GHB) intoxication

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Elevation of AKR7A2 (succinic semialdehyde reductase) in neurodegenerative disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

The mutation in the mitochondrial aldehyde dehydrogenase (ALDH2) gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10288

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10288

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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