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

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2010

Ferdinandusse Sacha, Barker Simon, Lachlan Katherine, Duran Marinus, Waterham Hans R, Wanders Ronald J A, Hammans Simon

Abstract excerpt

Peroxisomal acyl-coenzyme A oxidase deficiency (formerly also called pseudoneonatal adrenoleucodystrophy) is a disorder of peroxisomal fatty acid oxidation with a severe presentation. Most patients present at birth or in early infancy, and the mean age of death was 5 years in a recently published...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Brain Stem
Share to Cerebellum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Progression

Share to Magnetic Resonance Imaging

Share to Neurologic Examination

Share to Oxidoreductases

Share to Peroxisomal Disorders

Source

Identifiers

PMID: 20185470
DOI: 10.1136/jnnp.2009.176255

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20185470-2026-09-02.2. 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

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.PMID 20185470Read ↗

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.Semantic proximity Read ↗

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.Semantic proximity Read ↗

Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.Semantic proximity Read ↗

X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.Semantic proximity Read ↗

Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.Semantic proximity Read ↗

Clinical consequences of defects in peroxisomal beta-oxidation.Semantic proximity Read ↗

Late onset white matter disease in peroxisome biogenesis disorder.Semantic proximity Read ↗

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.Semantic proximity Read ↗

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.Semantic proximity Read ↗

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.Semantic proximity Read ↗

Variable phenotypes in a family kindred with adrenoleukodystrophy.Semantic proximity Read ↗

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.Semantic proximity Read ↗

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