O'Brien WM, La Du BN, Bunim JJ Biochemical, pathologic and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy. |
Garrod to map a metabolic disease, alkaptonuria, to a Mendelian pattern of inheritance. |
Robert Gregory, 63, from Childwall, has a debilitating condition called Alkaptonuria which is known as Black Bone Disease because it makes sufferers bone go black and brittle. |
The diagnosis of alkaptonuria was confirmed by the presence of markedly elevated homogentisic acid levels. |
The patient is a 66-year-old, white woman with a known history of alkaptonuria. |
Robert Gregory, 59, has suffered from Alkaptonuria, often known as Black Bone Disease, since birth. |