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Complete FXN Deletion in a Patient with Friedreich's Ataxia

✍ Scribed by van den Ouweland, Ans M.W.; van Minkelen, Rick; Bolman, Galhana M.; Wouters, Cokkie H.; Becht-Noordermeer, Cindy; Deelen, Wout H.; Deelen–Manders, J. Marianne C.; Ippel, Elly P.F.; Saris, Jasper; Halley, Dicky J.J.


Book ID
118146299
Publisher
Mary Ann Liebert
Year
2012
Tongue
English
Weight
254 KB
Volume
16
Category
Article
ISSN
1945-0265

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Normal pyruvate dehydrogenase complex ac
✍ George Constantopoulos; Charles S. C. Chang; John A. Barranger 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 405 KB 👁 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.