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

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies.

Current pharmaceutical biotechnology - 1 Jun 2011

Parenti Giancarlo, Andria Generoso

Abstract excerpt

Pompe disease (PD) is a metabolic myopathy caused by the deficiency of the lysosomal hydrolase acid α-glucosidase (GAA) and characterized by generalized glycogen storage. Heterogeneous GAA gene mutations result in wide phenotypic variability, ranging from the severe classic infantile presentation to the attenuated intermediate and late-onset forms. Enzyme replacement therapy (ERT) with recombinant human GAA...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Glucosidases
Share to Enzyme Replacement Therapy
Share to GAA gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Therapy

Share to Glycogen Storage Disease Type II

Share to Molecular Chaperones

Share to Phenotype

Source

Identifiers

PMID: 21235442
DOI: 10.2174/138920111795542606

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies.PMID 21235442Read ↗

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.Semantic proximity Read ↗

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and managementSemantic proximity Read ↗

Pompe's disease.Semantic proximity Read ↗

Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk ManagementSemantic proximity Read ↗

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

Pompe disease: clinical perspectivesSemantic proximity Read ↗

Gene Therapy for Pompe Disease: The Time is nowSemantic proximity Read ↗

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

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

[Pompe's disease. Part I: pathogenesis and clinical features].Semantic proximity Read ↗

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

Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapySemantic proximity Read ↗

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