"Acid Α-glucosidase" search results...

This study presents the results from 7 years of newborn screening (NBS) for Pompe disease (PD) and the management of infantile-onset (IOPD) and late-onset (LOPD) patients.

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

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

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

2021-05-21

The aim of this study was to identify genetic variations and clinical features in Spanish subjects to establish genotype-phenotype correlation.

POMPE

A genetic modifier of symptom onset in Pompe disease

2019-05-01

A cohort of 143 compound heterozygous and 10 homozygous IVS1 patients were analyzed in this article. c.510CNT is a genetic modifier in compound heterozygous and homozygous IVS1 patients. This finding is important for neonatal screening programs for Pompe disease.

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

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

POMPE

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

POMPE

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

POMPE

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

POMPE

A genetic modifier of symptom onset in Pompe disease

POMPE

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

News and Events

ASHG 2025

ESHG - Avrupa İnsan Genetiği Konferansı 2025

World Orphan Drug Congress 2025

Gene2info provides genetic diagnoce service for 23 of rare diseases