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

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease].

Ideggyogyaszati szemle - 30 May 2020

Molnár Mária Judit, Borsos Beáta, Várdi Katalin Visy, Grosz Zoltán, Sebők Ágnes, Dézsi Lívia, Almássy Zsuzsanna, Kerényi Levente, Jobbágy Zita, Jávor László, Bidló Judit

Abstract excerpt

Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have...

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 Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enzyme Replacement Therapy

Share to Follow-Up Studies

Share to Glycogen Storage Disease Type II

Share to Mutation

Share to Treatment Outcome

Source

Identifiers

PMID: 32579304
DOI: 10.18071/isz.73.0151

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

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease].PMID 32579304Read ↗

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.Semantic proximity Read ↗

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

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

Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy.Semantic proximity Read ↗

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

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

A Comprehensive Update on Late-Onset Pompe Disease.Semantic proximity Read ↗

[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].Semantic proximity Read ↗

A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.Semantic proximity Read ↗

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.Semantic proximity Read ↗

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

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