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

Phenotypic implications of pathogenic variant types in Pompe disease.

Journal of human genetics - 1 Nov 2021

Viamonte Manuel A, Filipp Stephanie L, Zaidi Zara, Gurka Matthew J, Byrne Barry J, Kang Peter B

Abstract excerpt

Newborn screening and therapies for Pompe disease (glycogen storage disease type II, acid maltase deficiency) will continue to expand in the future. It is thus important to determine whether enzyme activity or type of pathogenic genetic variant in GAA can best predict phenotypic severity, particularly the presence of infantile-onset Pompe disease (IOPD) versus late-onset Pompe disease (LOPD). We performed a...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Age of Onset
Share to alpha-Glucosidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Disease Type II

Share to Infant, Newborn

Share to Neonatal Screening

Share to Protein Isoforms

Share to Young Adult

Source

Identifiers

PMID: 33972680
DOI: 10.1038/s10038-021-00935-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic implications of pathogenic variant types in Pompe disease.PMID 33972680Read ↗

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

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.Semantic proximity Read ↗

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.Semantic proximity Read ↗

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.Semantic proximity Read ↗

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.Semantic proximity Read ↗

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.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 ↗

Predicting the phenotype of Pompe Disease from features of GAA variants.Semantic proximity Read ↗

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistrySemantic proximity Read ↗

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

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.Semantic proximity Read ↗

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?Semantic proximity Read ↗

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