OT: Alkaptonuria (AKU) is a rare genetic disease ... At the moment, the only widely-available options for treatment are pain relief and joint replacement surgery. AKU will also cause stones ...
A 75-year-old man with suspected scleral thinning was referred to our ophthalmology clinic. The patient had visited his ...
A single-gene disorder identified by Archibald Garrod that is characterized by dark urine. Garrod first coined the term "inborn error in metabolism" to describe this ...