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

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Brain : a journal of neurology - 1 Jan 2009

Wortmann Saskia B, Rodenburg Richard J T, Jonckheere An, de Vries Maaike C, Huizing Marjan, Heldt Katrin, van den Heuvel Lambert P, Wendel Udo, Kluijtmans Leo A, Engelke Udo F, Wevers Ron A, Smeitink Jan A M, Morava Eva

Abstract excerpt

The heterogeneous group of 3-methylglutaconic aciduria type IV consists of patients with various organ involvement and mostly progressive neurological impairment in combination with 3-methylglutaconic aciduria and biochemical features of dysfunctional oxidative phosphorylation. Here we describe t...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases, Metabolic, Inborn
Share to Cardiomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase gamma

Share to Facies

Share to Glutarates

Share to Metabolism, Inborn Errors

Share to Mitochondrial Proton-Translocating ATPases

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 19015156
DOI: 10.1093/brain/awn296

Genes

RYR1
SUCLA2
TMEM70

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19015156-2026-09-02.2. 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

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.PMID 19015156Read ↗

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.Semantic proximity Read ↗

3-methylglutaconic aciduria disorders: the clinical spectrum increases.Semantic proximity Read ↗

[Analysis of six children with 3-methylglutaconic aciduria].Semantic proximity Read ↗

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.Semantic proximity Read ↗

Respiratory Chain Encephalomyopathies: A Diagnostic ClassificationSemantic proximity Read ↗

Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.Semantic proximity Read ↗

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.Semantic proximity Read ↗

3-Methylglutaconic aciduria type VIII in an Indian neonate.Semantic proximity Read ↗

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.Semantic proximity Read ↗

An infant with glutaric aciduria type IIc diagnosed with a novel mutation.Semantic proximity Read ↗

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.Semantic proximity Read ↗

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).Semantic proximity Read ↗

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