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

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.

Journal of neurology - 1 Oct 2017

Pichiecchio A, Sacco S, De Filippi P, Caverzasi E, Ravaglia S, Bastianello S, Danesino C

Abstract excerpt

Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues. Several reports suggest a higher incidence of intracranial vascular abnormalities (IVAs) in this condition, as well as brain microbleeds and cerebral vasculopathy. The aim of our study was to evaluate through neuroimaging studies the...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Brain
Share to Cerebrovascular Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucosyltransferases

Share to Glycogen Storage Disease Type II

Share to Matrix Metalloproteinase 3

Share to Neuroimaging

Share to Statistics as Topic

Source

Identifiers

PMID: 28856460
DOI: 10.1007/s00415-017-8601-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.PMID 28856460Read ↗

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.Semantic proximity Read ↗

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.Semantic proximity Read ↗

A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.Semantic proximity Read ↗

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review.Semantic proximity Read ↗

New mutations and genotype-phenotype correlation in late-onset Pompe patients.Semantic proximity Read ↗

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.Semantic proximity Read ↗

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.Semantic proximity Read ↗

Moyamoya Disease-like Cerebrovascular Stenotic Lesions Are an Important Phenotype of POEMS Syndrome-associated Vasculopathy.Semantic proximity Read ↗

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation.Semantic proximity Read ↗

Toward deconstructing the phenotype of late-onset Pompe disease.Semantic proximity Read ↗

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.Semantic proximity Read ↗

Pompe disease in Austria: clinical, genetic and epidemiological aspects.Semantic proximity Read ↗

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