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

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

11 Sept 2019

Abstract excerpt

BACKGROUND: Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in Thailand. METHODS: Twelve patients with infantile-onset Pompe disease (IOPD) including 10 Thai and two other Asian...

Read the complete abstract on PubMed

Topics

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

Share to Glycogen Storage Diseases and Myoclonus
Share to Lysosomal Storage Disorders Research
Share to Whipple's Disease and Interleukins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31510962
DOI: 10.1186/s12881-019-0878-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in ThailandPMID 31510962Read ↗

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

Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.Semantic proximity Read ↗

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

Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.Semantic proximity Read ↗

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

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.Semantic proximity Read ↗

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

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

Current status of newborn screening for Pompe disease in JapanSemantic proximity Read ↗

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

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