homocystinuria उदाहरण वाक्य
उदाहरण वाक्य
- The " CBS " gene is the most common locus for mutations associated with homocystinuria.
- In addition, homocystinuria is a hereditary disease caused by the deficiency of L-serine dehydratase.
- Similar experiments were conducted with baboons, and McCully examined and manipulated cell cultures from children with homocystinuria.
- Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine leading to the accumulation of homocysteine.
- Long fingers ( Arachnodactyly ) and a tall, thin appearance is very noticeable in people with the condition called homocystinuria.
- Kilmer McCully was a promising young graduate of Harvard Medical School in the 1960s when he heard about a rare disease called homocystinuria.
- He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria.
- 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.
- 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.
- 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.