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

A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria.

BMC veterinary research - 26 Jul 2012

Farias Fabiana H G, Zeng Rong, Johnson Gary S, Shelton G D, Paquette Dominique, O'Brien Dennis P

Abstract excerpt

BACKGROUND: L-2-hydroxyglutaric aciduria is a metabolic repair deficiency characterized by elevated levels of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. Neurological signs associated with the disease in humans and dogs include seizures, ataxia and dementia. CASE PRESENTATION: Here we describe an 8 month old Yorkshire terrier that presented with episodes of hyperactivity and aggressive...

Read the complete abstract on PubMed

Topics

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

Share to Alcohol Oxidoreductases
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dog Diseases

Share to Gene Expression Regulation, Enzymologic

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 22834903
DOI: 10.1186/1746-6148-8-124
PMCID: PMC3461439

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria.PMID 22834903Read ↗

A novel homozygous missense mutation in L-2-HGA gene: A case report.Semantic proximity Read ↗

Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant.Semantic proximity Read ↗

Neuropathological findings in a Staffordshire bull terrier with l-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation.Semantic proximity Read ↗

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.Semantic proximity Read ↗

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.Semantic proximity Read ↗

L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.Semantic proximity Read ↗

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.Semantic proximity Read ↗

Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria.Semantic proximity Read ↗

A novel mutation as a cause of L-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria.Semantic proximity Read ↗

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