"Glycogen" search results...

POMPE

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

2023-08-04

This is the first study to analyze the genotype and phenotype of Malaysian infantile-onset Pompe disease (IOPD) patients, and has identified the c.1935C > A p.(D645E) as the most common mutation.

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

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

2022-03-09

Careful evaluation of common pediatric presentations, which may be an indication of serious underlying pathologies, is of great importance.

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

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

2022-01-15

In this study, 76 Spanish patients are reported with either infantile or late onset form of Pompe disease. Functional characterization of some splice mutations showed deleterious mechanisms on the processing of mRNA.

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

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

2021-12-01

This study has identified four novel variants in patients with LOPD. The c.2238G>C (p.W746C) mutation was the most common mutation in 14 patients with LOPD from eastern China.

POMPE

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

2021-11-30

This study describes the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD.

POMPE

STIG study: Real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

2021-07-26

The goal of this study is to determine alglucosidase alfa's long-term effectiveness and safety in the real world.

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

2021-05-11

In Pompe disease, it is crucial to figure out whether enzyme activity or the type of pathogenic genetic variant in GAA best predicts phenotypic severity. Complete genetic, cardiac, and neurological examinations are critical for newly identified Pompe disease patients.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

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

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

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

POMPE

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

POMPE

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

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

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

POMPE

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

POMPE

STIG study: Real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

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