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Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis

✍ Scribed by D. Zolotov; S. Wagner; K. Kalb; J. Bunia; A. Heibges; R. Klingel


Book ID
112119642
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
891 KB
Volume
27
Category
Article
ISSN
0733-2459

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Phytanic acid storage disease (Refsum's
✍ Robert Weinstein πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 26 KB πŸ‘ 2 views

Phytanic acid storage disease (known also as Refsum's Disease) is caused by inherited defects in the metabolic pathway for phytanic acid, a dietary branched-chain fatty acid. Poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths, and in organs including the liver an