Joana is currently completing her PhD in Biomedicine and Clinical Research at Universidade de Lisboa. She also holds a BSc in Biology and an MSc in Evolutionary and Developmental Biology from Universidade de Lisboa. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that make up the lining of blood vessels — found in the umbilical cord of newborns.
Physicians should be aware that milder and slow-progressing forms of Sanfilippo syndrome may not be associated with severe cognitive impairments and may emerge differently later in life, a study ... Read more
Using different cellular models of Sanfilippo syndrome type B, researchers have found that exposure time and dose significantly affect the cellular uptake of BMN 250, an investigational enzyme replacement therapy, ... Read more
Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using enzyme replacement therapy (ERT) is well-tolerated by patients with Mucopolysaccharidosis IIIB (MPS IIIB), but fails to improve clinical outcomes, a ... Read more
Combined behavioral and pharmacological therapy seems to be the best course of action in treating behavioral and sleep problems in children with mucopolysaccharidosis (MPS) disorders, a review study has ... Read more
Culturing skin cells from patients with Mucopolysaccharidosis IIIB (MPS IIIB) at lower temperatures promotes the production of the active form of the alpha-N-acetylglucosaminidase (NAGLU) enzyme, researchers have found. These results may ... Read more
For the first time, researchers have created and validated two lines of stem cells derived from the skin cells of a patient with mucoplysaccharydosis IIIA (MPSIIIA), the most severe ... Read more
Pin It on Pinterest