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

Combination of two different homozygote mutations in Pompe disease.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Mar 2016

Arslan Alev, Poyrazoğlu Hatice Gamze, Kiraz Aslihan, Özcan Alper, Işık Halid, Ergul Ayse Betül, Mungan Neslihan Önenli, Streubel Berthold, Ceylaner Serdar, Altuner Torun Yasemin

Abstract excerpt

Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13 T > G homozygote and...

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 DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Predisposition to Disease

Share to Glycogen Storage Disease Type II

Share to Homozygote

Share to Infant

Share to Phenotype

Source

Identifiers

PMID: 26946079
DOI: 10.1111/ped.12873

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Combination of two different homozygote mutations in Pompe disease.PMID 26946079Read ↗

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 ↗

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

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

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

Molecular genetics of Pompe disease: a comprehensive overviewSemantic 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 ↗

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.Semantic proximity Read ↗

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.Semantic proximity Read ↗

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

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.Semantic proximity Read ↗

Two novel mutations in acid α-glucosidase gene in two patients with 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 ↗

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