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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

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

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

The impact of interrupting enzyme replacement therapy in late‑onset Pompe disease

2021-02-24

This study aimed to analyse the impact of ERT interruption on clinical outcome of LOPD patients. As a result, interruption of ERT was associated with a worsening of the objective outcome measures. Therefore, an interruption of ERT in LOPD should be kept as short as possible.

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

2020-08-03

Early detection is critical for preventing or reducing the permanent organ damage that comes with Pompe disease (PD) progression. Pathogenesis, clinical phenotypes, molecular genetics, diagnosis and treatments about PD are covered in this article.

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

2019-08-01

This study updates the available clinical and diagnostic data about Pompe disease. The benefits and side effects of existing treatments and new therapeutic research are also reviewed.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

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

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

POMPE

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

POMPE

The impact of interrupting enzyme replacement therapy in late‑onset Pompe disease

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

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