TY  - GEN
AU  - Boentert, Matthias
AU  - Prigent, Helene
AU  - Vardi, Katalin
AU  - Jones, Harrison N.
AU  - Mellies, Uwe
AU  - Simonds, Anita K.
AU  - Wenninger, Stephan
AU  - Cortes, Emilia Barrot
AU  - Confalonieri, Marco
PY  - 2016
DO  - 10.3390/ijms17101735
SN  - 1422-0067
UR  - http://hdl.handle.net/10668/19272
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
PB  - Mdpi
KW  - neuromuscular disorders
KW  - Pompe disease
KW  - respiratory muscle weakness
KW  - mechanical ventilation
KW  - cough assistance
KW  - Polysomnographic findings
KW  - Lung-function
KW  - Training rmt
KW  - Failure
KW  - Predictors
KW  - Symptoms
KW  - Hypoventilation
KW  - Progression
KW  - Hypercapnia
KW  - Prevalence
TI  - Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease
TY  - review
VL  - 17
ER  -