A genetic screen can potentially diagnose ... a pediatrician may have reason to believe that the child has a form of mucopolysaccharidosis. Mucopolysaccharidosis is a family of diseases caused ...

"So, if you're a genetic counselor talking to someone newly diagnosed as a carrier for a cancer risk gene mutation, how do you help them decide how much effort—time, money, resources, emotions ...

Sanfilippo syndrome is a genetic disorder that affects how the body processes certain sugars. According to Dr Shrivarthan R, it belongs to a group of diseases called mucopolysaccharidosis.

These findings emphasize the necessity of genetic screening, early identification of at-risk individuals and rigorous cardiovascular risk factor management to mitigate adverse outcomes. “Identifying ...