ABG |
Arterial blood gases |
BAL |
Bronchoalveolar lavage |
BMI |
Body mass index |
CT |
Computed tomography |
DLCO |
Diffusion capacity for carbon monoxide |
EPAP |
Expiratory positive airway pressure |
ERT |
Enzyme replacement therapy |
FEV1 |
Forced expiratory volume in the first second |
FVC |
Forced vital capacity |
GAA |
Acid alpha-glucosidase |
GAG |
Glycosaminoglycans |
Gb3 |
Globotriaosylceramide |
GBA |
Acid beta-glucosidase or glucosylceramidase |
GSD II |
Glycogen storage disease type II |
HRCT |
High-resolution computed tomography |
HSCT |
Hematopietic stem-cell transplantation |
IPAP |
Inspiratory positive airway pressure |
LDL |
Low-density lipoprotein |
LOPD |
Late-onset Pompe disease |
LSD |
Lysosomal storage diseases |
Lyso-Gb3 |
Globotriaosylsphingosine |
MEP |
Maximum expiratory pressure |
MIP |
Maximum inspiratory pressure |
ML |
Mucolipidosis |
MPS |
Mucopolysaccharidosis |
MRI |
Magnetic resonance imaging |
MV |
Mechanical ventilation |
MVV |
Maximum voluntary ventilation |
NIV |
Non-invasive ventilation |
NPC |
Niemann-Pick disease type C |
OSA |
Obstructive sleep apnea |
PaCO2
|
Partial pressure of carbon dioxide in arterial blood |
PCF |
Peak cough flow |
PFTs |
Pulmonary function tests |
PSG |
Polysomnography |
REM |
Rapid eye movement |
SDB |
Sleep-disordered breathing |
SNIP |
Sniff nasal inspiratory pressure |
SRT |
Substrate reduction therapy |
VC |
Vital capacity |