Article
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
Molecular genetics and metabolism - 1 Feb 2012
Utz Jeanine R Jarnes, Lorentz Cindy Pham, Markowitz Dorothy, Rudser Kyle D, Diethelm-Okita Brenda, Erickson David, Whitley Chester B
Abstract excerpt
UNLABELLED: Sapropterin dihydrochloride, a synthetic tetrahydrobiopterin (BH4), works as a chaperone of phenylalanine hydroxylase (PAH) in phenylketonuria (PKU) to facilitate and stabilize folding of PAH into its most active conformation. No standard pharmacogenetic tests exist to identify responsive genotypes. Previous studies have failed to identify genotypes that consistently predict response; they are...
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