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Friedreich'S Ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets

✍ Scribed by Dr. David A. Stumpf; Janice K. Parks


Publisher
John Wiley and Sons
Year
1978
Tongue
English
Weight
268 KB
Volume
4
Category
Article
ISSN
0364-5134

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## Abstract Normal activity of the pyruvate dehydrogenase complex was found in platelet‐enriched preparations from two siblings with Friedreich's ataxia who had been reported previously as being deficient in this enzyme.

Pyruvate carboxylase activity is not abn
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childhood despite reported cases, we are, to our knowledge, ## Activity of Pyruvute Carboxylase in Fibroblasts reporting the youngest affected patient. Central pontine myelinolysis is attributed to overly rapid correction of hyponatremia, as occurred in this patient, although the precise mechani