𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia

✍ Scribed by Dr. Robert B. Wilson; David R. Lynch; Kenneth H. Fischbeck

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
339 KB
Volume
44
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

✦ Synopsis

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 role of iron-chelation therapy for FRDA, we measured serum iron and ferritin concentrations in 10 FRDA patients. The measurements were within normal limits, suggesting that iron-chelation therapy for FRDA may be problematic.

πŸ“œ SIMILAR VOLUMES

Normal pyruvate dehydrogenase complex ac
Normal pyruvate dehydrogenase complex activity in patients with Friedreich's ataxia
✍ George Constantopoulos; Charles S. C. Chang; John A. Barranger πŸ“‚ Article πŸ“… 1980 πŸ› John Wiley and Sons 🌐 English βš– 405 KB πŸ‘ 2 views

## 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.

Antioxidant treatment improves in vivo c
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
✍ 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

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