Keyword "ENZYME REPLACEMENT THERAPY" found in the following publications:
CLINICAL CASES OF THE FAMILIAL FORM OF GAUCHER DISEASE TYPE I
Gaucher disease is a lysosomal disease of accumulation with an autosomal recessive type of inheritance. Mutations of the glucocerebrosidase gene ...
POMPE DISEASE WITH A LATE ONSET. WHAT DOES A PRACTITIONER NEED TO KNOW ABOUT?
The article presents a clinical case of observation and treatment of a patient with late-onset Pompe disease (LОPD), a rare ...