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's disease. Part I: pathogenesis and clinical features].

Ideggyogyaszati szemle - 30 Jul 2009

Illés Zsolt, Trauninger Anita

Abstract excerpt

Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. According to the natural course, early infantile and late childhood-juvenile-adult cases are...

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 Glycogen Storage Disease Type II
Share to Heart Function Tests

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

Share to Muscle Hypotonia

Share to Polysomnography

Share to Respiratory Function Tests

Share to Respiratory Insufficiency

Source

Identifiers

PMID: 19685701

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19685701-2026-09-02.2. 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

[Pompe's disease. Part I: pathogenesis and clinical features].PMID 19685701Read ↗

Pompe's disease.Semantic proximity Read ↗

Pompe disease: clinical perspectivesSemantic proximity Read ↗

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

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.Semantic proximity Read ↗

[A new phenotype of infantile-onset Pompe disease].Semantic proximity Read ↗

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

[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].Semantic proximity Read ↗

A case of infantile Pompe disease with intrauterine onset and literature reviewSemantic proximity Read ↗

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

Pompe disease: literature review and case series.Semantic 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 ↗

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

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