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Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia

✍ Scribed by U. J. Dijkstra; J. M. F. Trijbels; W. Ruitenbeek; J. A. J. M. Bakkeren; A. J. M. Janssen; F. J. M. Gabreëls; E. M. G. Joosten

Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
105 KB
Volume
16
Category
Article
ISSN
0364-5134

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✦ Synopsis

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 mechanism is not known 12, 31. In two experimental models, central pontine myelinolysis has been produced in rats and dogs by rapid correction of hyponatremia f2, 3).

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Much evidence, derived from biochemical studies of both blood and autopsied brain, has suggested that phospholipid metabolism is abnormal in patients with Friedreich's ataxia (FA), a disorder characterized by severe neuronal loss in the spinal cord and lower brain stem with no, or only modest, damag