Abstract
Autosomal dominant olivopontocerebellar degeneration was evaluated in a family numbering 414 living members. Urine samples were obtained from 5 affected and 5 unaffected not at-risk family members after 4 days on a synthetic diet. 159 urine vapor constituents were measured by gas-liquid and ion-exchange chromatography and a non-correlation index was calculated. 2 distinct populations of urine vapor patterns were identified which conformed to the normal and disease affected groups, thus a diagnostically useful pattern for this disease in this family has been demonstrated which will be helpful in genetic counselling and potential elimination of the disease.
Original language | English (US) |
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Pages (from-to) | 365-368 |
Number of pages | 4 |
Journal | Clinical Biochemistry |
Volume | 8 |
Issue number | 1-6 |
DOIs | |
State | Published - Feb 1975 |
ASJC Scopus subject areas
- Clinical Biochemistry