Tetrahydrobiopterin synthesis is reduced in Down's syndrome as measured by a) a persistently high urine neopterin biopterin ratio during life, b) a reduced urine isoxanthopterin output and c) a delayed P100 visual evoked potential.
|Publication status||Unpublished - 1993|
|Event||12th International Winter Workshop on Biochemical and Clinical Aspects of Pteridines - St. Christoph, Arlberg, Austria|
Duration: 1 Feb 1993 → …
|Workshop||12th International Winter Workshop on Biochemical and Clinical Aspects of Pteridines|
|City||St. Christoph, Arlberg|
|Period||1/02/93 → …|
Bibliographical noteAbstract appearing in Pteridines 4:P95, 0933-4807.
- tetrahydrobiopterin synthesis
- Down's syndrome
- urine neopterin biopterin
- urine isoxanthopterin output
- delayed P100 visual evoked potential