Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.

Journal of inherited metabolic disease - 1 Dec 2009

Di Rosa G, Malaspina P, Blasi P, Dionisi-Vici C, Rizzo C, Tortorella G, Crutchfield S R, Gibson K M

Abstract excerpt

In mammals, increased GABA in the central nervous system has been associated with abnormalities of visual evoked potentials (VEPs), predominantly manifested as increased latency of the major positive component P100. Accordingly, we hypothesized that patients with a defect in GABA metabolism, succ...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Evoked Potentials, Visual

Share to Hydroxybutyrates

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 19484191
DOI: 10.1007/s10545-009-1154-4
PMCID: PMC2888988

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19484191-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.PMID 19484191Read ↗

Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted MedicineSemantic proximity Read ↗

Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.Semantic proximity Read ↗

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

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during developmentSemantic proximity Read ↗

Succinic Semialdehyde Dehydrogenase Deficiency: An UpdateSemantic proximity Read ↗

Succinic Semialdehyde Dehydrogenase Deficiency: An Update.Semantic proximity Read ↗

Novel genetic tools to model functional enzyme restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD)Semantic proximity Read ↗

Clinical spectrum of succinic semialdehyde dehydrogenase deficiencySemantic proximity Read ↗

The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review.Semantic proximity Read ↗

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.Semantic proximity Read ↗

Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and menSemantic proximity Read ↗

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.