"Respiratory Function" search results...

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

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

2021-01-07

In this cross-sectional study, it is aimed to identify early signs of diaphragmatic weakness in Pompe patients using chest MRI.

MPS

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age

2017-06-01

The aim of this study was to assess every effectiveness variable modified in Mucopolysaccharidosis Type I (MPS-I) patients who initiated laronidase at adult age.

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

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

MPS

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age

News and Events

ASHG 2025

8th Neuromuscular Diseases Congress

ESHG - Avrupa İnsan Genetiği Konferansı 2025

Gene2info provides genetic diagnoce service for 23 of rare diseases