𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Normal pyruvate dehydrogenase complex activity in patients with Friedreich's ataxia

✍ Scribed by George Constantopoulos; Charles S. C. Chang; John A. Barranger


Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
405 KB
Volume
8
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

✦ Synopsis


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.


πŸ“œ SIMILAR VOLUMES


Pyruvate carboxylase activity is not abn
✍ U. J. Dijkstra; J. M. F. Trijbels; W. Ruitenbeek; J. A. J. M. Bakkeren; A. J. M. πŸ“‚ Article πŸ“… 1984 πŸ› John Wiley and Sons 🌐 English βš– 105 KB πŸ‘ 2 views

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

Normal serum iron and ferritin concentra
✍ Dr. Robert B. Wilson; David R. Lynch; Kenneth H. Fischbeck πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 339 KB πŸ‘ 1 views

Friedreich's ataxia (FRDA) is caused by point mutations or trinucleotide repeat expansions in both alleles of the gene encoding frataxin. Studies of frataxin homologues in lower eukaryotes suggest that mitochondrial iron accumulation may underlie the pathophysiology of FRDA. To evaluate the possible

Antioxidant treatment improves in vivo c
✍ Raffaele Lodi; Paul E. Hart; Bheeshma Rajagopalan; Doris J. Taylor; Jenifer G. C πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 168 KB πŸ‘ 1 views

## Abstract Friedreich's ataxia (FA) is the most common form of autosomal recessive spinocerebellar ataxia and is often associated with a cardiomyopathy. The disease is caused by an expanded intronic GAA repeat, which results in deficiency of a mitochondrial protein called __frataxin__. In the yeas