Friedreich's Ataxia 1978--an overview.
In the present overview an attempt is made to summarize the investigations carried out during the first part of Phase Two of the Quebec Cooperative Study of Friedreich's Ataxia. These investigations delineated the relative importance of various biochemical leads uncovered during the preliminary survey. It is possible to indicate some findings that may be primary and which should be pursued in subsequent investigations. Among these, the observation of an abnormal composition of high density lipoproteins in Friedreich's Ataxia appears to be the most important.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000378:metabolism; D000818:Animals; D001663:Bilirubin / Q000378:metabolism; D002118:Calcium / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000378:metabolism; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D010101:Oxygen Consumption; D011773:Pyruvates / Q000378:metabolism; D051381:Rats
D000596:Amino Acids; D011773:Pyruvates; D001663:Bilirubin; D002118:Calcium