Health
Partners in crime: Genetic collaborator may influence severity of the rare disease, NGLY1 – Medical Xpress
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery…
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand’s diagnosis allowed doctors to look for other children with the same genetic defect. Since then, more than 60 additional patients have been found. The disease affects every system of the body and is characterized by low muscle tone, seizures, developmental delays, and an inability to produce tears.
Sadly, Bertrand…
-
Noosa News15 hours agoForum responds to urgent homelessness issues in Nambour
-
Noosa News13 hours agoQueensland weather forecast sees sunny weather for last week of winter
-
Noosa News11 hours agoVisiting judges to join Qld Court of Appeal – Proctor
-
General14 hours agoEnergy provider ENGIE to ‘correct’ electricity bills for thousands of South Australian customers