TY  - JOUR
AU  - Boentert, Matthias
AU  - Prigent, Hélène
AU  - Várdi, Katalin
AU  - Jones, Harrison N
AU  - Mellies, Uwe
AU  - Simonds, Anita K
AU  - Wenninger, Stephan
AU  - Barrot Cortés, Emilia
AU  - Confalonieri, Marco
PY  - 2016
DO  - 10.3390/ijms17101735
UR  - https://hdl.handle.net/10668/24951
T2  - International journal of molecular sciences
AB  - Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease...
LA  - en
KW  - Pompe disease
KW  - cough assistance
KW  - mechanical ventilation
KW  - neuromuscular disorders
KW  - respiratory muscle weakness
KW  - Adult
KW  - Glycogen Storage Disease Type II
KW  - Humans
KW  - Infant
KW  - Muscle Weakness
KW  - Respiratory Function Tests
KW  - Respiratory Insufficiency
KW  - Respiratory Muscles
KW  - Surveys and Questionnaires
TI  - Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
TY  - research article
VL  - 17
ER  -