Hemochromatosis is a hereditary iron overload syndrome characterized by increased iron storage, followed by liver cirrhosis and is often associated with restrictive cardiomyopathy. The purpose of this study was to detect alterations of cardiac high-energy phosphate metabolism in patients with heredi
β¦ LIBER β¦
Phosphorus-31 Two-Dimensional Chemical Shift Imaging in the Myocardium of Patients with Late Onset of Friedreich Ataxia
β Scribed by Christian Wolf; Sylvia Boesch; Bernhard Metzler; Helga Weirich-Schwaiger; Thomas Trieb; Michael F. H. Schocke
- Publisher
- Springer-Verlag
- Year
- 2007
- Tongue
- English
- Weight
- 246 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1536-1632
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## Abstract Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the __FRDA__ gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by longβrange