Sign Up to like & get
recommendations!
0
Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100586
Abstract: Objectives Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder resulting from deficient lysosomal alpha-mannosidase activity. Clinical manifestations include progressive balance disorders, immune deficiency, skeletal abnormalities and cognitive deficits beginning in early childhood. Enzyme replacement…
read more here.
Keywords:
bot;
velmanase;
velmanase alfa;
motor proficiency ... See more keywords