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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

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

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

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

2021-08-01

The goal of this study was to look at ERT-related skeletal muscle alterations as well as the connection between morphological/biochemical changes and clinical outcomes in patients with late-onset Pompe disease (LOPD). In the majority of LOPD patients, ERT improved skeletal muscle pathology, as well as motor and respiratory outcomes.

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

2018-08-01

The goal of this study was to look at ERT-related skeletal muscle alterations as well as the connection between morphological/biochemical changes and clinical outcomes in patients with late-onset Pompe disease (LOPD). In the majority of LOPD patients, ERT improved skeletal muscle pathology, as well as motor and respiratory outcomes.

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

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

POMPE

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

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

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