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

Clinical features of Pompe disease.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Oct 2013

Manganelli Fiore, Ruggiero Lucia

Abstract excerpt

Glycogen storage disease type II - also called Pompe disease or acid maltase deficiency - is an autosomal recessive metabolic disorder, caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), located on chromosome...

Read the complete abstract on PubMed

Topics

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

Share to Lysosomes
Share to Muscle Weakness
Share to Prognosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glycogen Storage Disease Type II

Share to Age of Onset

Share to alpha-Glucosidases

Share to Diagnosis, Differential

Share to Glycogen

Source

Open in PubMed Open full text

Identifiers

PMID: 24399863
PMCID: PMC3866902

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features of Pompe disease.PMID 24399863Read ↗

Pompe disease: clinical perspectivesSemantic proximity Read ↗

Molecular genetics of Pompe disease: a comprehensive overviewSemantic proximity Read ↗

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.Semantic proximity Read ↗

Pompe's disease.Semantic proximity Read ↗

Pompe disease: pathogenesis, molecular genetics and diagnosis.Semantic proximity Read ↗

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.Semantic proximity Read ↗

Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.Semantic proximity Read ↗

The emerging phenotype of late-onset Pompe disease: A systematic literature review.Semantic proximity Read ↗

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.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 ↗

Presymptomatic late-onset Pompe disease identified by the dried blood spot test.Semantic proximity Read ↗

Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management.Semantic proximity Read ↗

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