Therapeutic thoroughfares for adults living with Pompe disease
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000001092
Abstract: Purpose of review Pompe disease is caused by autosomal recessive mutations in the acid α-glucosidase gene leading to a multiorgan deficiency of the enzyme acid glucosidase alfa. To recover to a nondiseased status, a lift… read more here.
Keywords: acid glucosidase; disease; therapy; pompe disease ... See more keywords
Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23073536
Abstract: Ambroxol (ABX) is a mucolytic agent used for the treatment of respiratory diseases. Bioactivity has been demonstrated as an enhancement effect on lysosomal acid β-glucosidase (β-Glu) activity in Gaucher disease (GD). The positive effects observed… read more here.
Keywords: acid glucosidase; glu; mode action; action ... See more keywords
Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases
Sign Up to like & getrecommendations! Published in 2017 at "Genetics and Molecular Research"
DOI: 10.4238/gmr16039844
Abstract: When a low activity of acid α-glucosidase (GAA) is found, particularly in newborn screening programs, to differentiate α-glucosidase pseudo deficiency from true Pompe disease is important and urgent, as the result generates parental stress and… read more here.
Keywords: acid glucosidase; pseudo deficiency; newborn screening; pompe ... See more keywords