Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.
An accurate and early diagnosis of Sanfilippo syndrome type C can be difficult, as this subtype is quite rare, but important to prevent life-threatening complications and improve life quality, a ... Read more
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
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