The " CBS " gene is the most common locus for mutations associated with homocystinuria.
12.
In addition, homocystinuria is a hereditary disease caused by the deficiency of L-serine dehydratase.
13.
Similar experiments were conducted with baboons, and McCully examined and manipulated cell cultures from children with homocystinuria.
14.
Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine leading to the accumulation of homocysteine.
15.
Long fingers ( Arachnodactyly ) and a tall, thin appearance is very noticeable in people with the condition called homocystinuria.
16.
Kilmer McCully was a promising young graduate of Harvard Medical School in the 1960s when he heard about a rare disease called homocystinuria.
17.
He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria.
18.
A major lead came from victims of a rare inherited disease, homocystinuria, in which the liver is unable to dispose of the amino acid efficiently.
19.
In other cases, seriously thickened walls of the carotid arteries were found in young adults born with only one of the two genes that cause homocystinuria.
20.
He became intrigued by two different cases of children with homocystinuria, a rare genetic disease in which the levels of homocysteine in the blood are unnaturally high.
