Rare Diseases

Current bibliography for experts

"Glycogen Storage Disease Type Ii" search results...

POMPE

Development of a clinically validated in vitro functional assay to assess the pathogenicity of novel GAA variants in patients with Pompe disease

2022-09-30

There is an unmet need for validated functional studies to aid in classification of GAA variants.

POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

2022-03-21

Mutational analysis of GAA and muscle biopsy are crucial in the diagnosis of Pompe disease.

POMPE

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: A cohort description

2022-03-04

In the light of this research, it is aimed to gather information about the course of SARS-CoV-2 infection and side effects of COVID-19 vaccinations in patients with Glycogen Storage Disease type II (GSDII).

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

2022-01-04

The aim of this study was to determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

2022-01-01

In this study, the determination of key genes involved in the response to ERT for Pompe disease and potential molecular mechanisms were investigated.

POMPE

Newborn Screening for Pompe Disease

2020-04-05

Newborn screening (NBS) is the most effective method for detecting and treating Pompe Disease (PD) early on. On the other hand, current NBS systems are unable to distinguish between pseudodeficiency and cases with PD or potential PD. Therefore, a combination of GAA gene analysis with NBS is needed for definitive PD diagnoses.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

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World Orphan Drug Congress 2025

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...