Alkaptonuria and Ochronosis
Factsheet on these disorders, their cause, clinical features and treatment.
Dad quits job to find disease cure for two sons
The BBC reports on a father who researched potential cures with medical specialists, and they consequently discovered that the drug nitisinone was a “very, very effective treatment.”
MedicineNet.com : Alkaptonuria
An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment.
Factsheet on this autosomal recessive condition, its epidemiology, presentation, differential diagnosis, investigations, complications, management, prognosis and prevention.
Encyclopedia article on this rare inherited genetic disorder.
eMedicine Online Text: Alkaptonuria
An in depth look article on this disorder written by Karl S Roth, MD. From a description to treatment all aspects of this disease are discussed.