Review articleThrowing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma
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Keywords
Gaucher disease
Pulmonary involvement
Pulmonary hypertension
Lymphadenopathy
Protein-losing enteropathy
Gaucheroma
Abbreviations
ACE I
angiotensin converting enzyme I
BBB
blood brain barrier
CNS
central nervous system
CT
computed tomography
DLCO
lung diffusing capacity for carbon monoxide
EOW
every other week
ERT
enzyme replacement therapy
ESC/ERS
European Society of Cardiology/European Respiratory Society
FVC
forced vital capacity
GD
Gaucher disease
GD1/2/3
Gaucher disease type 1/2/3
GlcCer
glucosylceramide, GL-1
GlcSph
glucosysphingosine, lyco-GL-1
HCC
hepatocellular carcinoma
HPS
hepatopulmonary syndrome
HRCT
high-resolution computed tomography
IU
International Unit
MRI
magnetic resonance imaging
PH
pulmonary hypertension
PLE
protein-losing enteropathy
SRT
substrate reduction therapy
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© 2021 The Authors. Published by Elsevier Inc.