"Glycogen Storage Disease Type I" 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.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

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

POMPE

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

POMPE

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

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

POMPE

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

POMPE

Newborn Screening for Pompe Disease

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