Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency (Q94661617)

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scientific article published on 04 May 2020

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English	Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency	scientific article published on 04 May 2020

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scholarly article

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17 May 2020

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency (English)

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17 May 2020

succinic semialdehyde dehydrogenase deficiency

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Janet Koster

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17 May 2020

Hans R Waterham

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Hans R Waterham

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17 May 2020

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Ana Pop

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17 May 2020

Desirée E C Smith

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17 May 2020

Trevor Kirby

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17 May 2020

Dana Walters

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17 May 2020

K Michael Gibson

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17 May 2020

Soufiane Mahmoudi

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17 May 2020

Silvy J M van Dooren

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17 May 2020

Warsha A Kanhai

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17 May 2020

Matilde R Fernandez-Ojeda

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17 May 2020

Eric J M Wever

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17 May 2020

Bram Grob

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17 May 2020

Birthe Roos

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17 May 2020

Mirjam M C Wamelink

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17 May 2020

Justin Chen

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17 May 2020

Senthil Natesan

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17 May 2020

Gajja S Salomons

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17 May 2020

publication date

4 May 2020

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17 May 2020

Molecular Genetics and Metabolism

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17 May 2020

A method and server for predicting damaging missense mutations

1 reference

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7 January 2021

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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7 January 2021

SSADH deficiency possibly associated with enzyme activity-reducing SNPs

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

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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.

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7 January 2021

Novel mutations in two unrelated Italian patients with SSADH deficiency

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The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family

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7 January 2021

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

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Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

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7 January 2021

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

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

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

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7 January 2021

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency

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7 January 2021

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

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7 January 2021

Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.

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7 January 2021

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

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7 January 2021

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency

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

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

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7 January 2021

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

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Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

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Neuropathology in succinic semialdehyde dehydrogenase deficiency

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A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency

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SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site

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Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

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7 January 2021

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses

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7 January 2021

A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency

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7 January 2021

Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations

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7 January 2021

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism

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7 January 2021

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

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7 January 2021

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability

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Succinic semialdehyde dehydrogenase deficiency in children and adults

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Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

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A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

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Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype

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A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.

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Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

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A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.

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10.1016/J.YMGME.2020.04.004

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32402538%20AND%20SRC:MED&resulttype=core&format=json

17 May 2020

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32402538%20AND%20SRC:MED&resulttype=core&format=json

17 May 2020

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