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…
-
General22 hours agoBunbury man Stanley J Clemons sentenced for shooting neighbour’s dog
-
Noosa News13 hours agoWarm weather could make way for rain with ‘damaging winds, large hail’
-
General23 hours agoHotel owner mocks Wollongong Council’s palm tree art after renovation refusal
-
General9 hours agoBritish and US planes fly 12-hour mission to patrol Russian border