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POMPE

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

2021-12-20

This national study based on data from the French Pompe Registry shows that the interruption of ERT, even as short as a few months, worsens Pompe patients' motor and respiratory function.

POMPE

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

2019-11-01

This study reports the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry. These data provide new information about the distribution of GAA variants globally and across the clinical spectrum, provide a first indication of the severity of novel variants, and assist in diagnostic practice and outcome prediction.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

POMPE

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

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