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 (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.

Neuromuscular disorders : NMD - 1 Jan 2007

Palmer Rachel E, Amartino Hernan M, Niizawa Gabriela, Blanco Mariana, Pomponio Robert J, Chamoles Nestor A

Abstract excerpt

Pompe disease is an autosomal recessive disorder caused by a deficiency in 1,4-alpha-glucosidase (EC.3.2.1.3), the enzyme required to hydrolyze lysosomal glycogen to glucose. While previous studies have focused on Pompe patients from Europe, the United States, and Taiwan, we have analyzed a group of South American Pompe patients to better understand the molecular basis of their disease. From 14 Argentinean...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to alpha-Glucosidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Argentina

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Glycogen Storage Disease Type II

Share to Infant

Source

Identifiers

PMID: 17056254
DOI: 10.1016/j.nmd.2006.09.004

Genes

GAA

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.PMID 17056254Read ↗

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

Novel GAA mutations in patients with Pompe disease.Semantic proximity Read ↗

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in JapanSemantic proximity Read ↗

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (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 ↗

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.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 ↗

Genotype-Phenotype correlation of 17 cases of Pompe Disease in Spanish Patients and Identification of 4 Novel MutationsSemantic proximity Read ↗

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.Semantic proximity Read ↗

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.Semantic proximity Read ↗

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.Semantic proximity Read ↗

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