Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
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DOI: 10.1016/j.ymgme.2017.05.003
Abstract: Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5. Elevated levels of… read more here.
Keywords: pristanoyl carnitine; peroxisomal disorders; plasma patients; phytanoyl pristanoyl ... See more keywords