Article
Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
Molecular genetics and metabolism - 1 Dec 2005
Matalon Reuben, Michals-Matalon Kimberlee, Koch Richard, Grady James, Tyring Stephen, Stevens Raymond C
Abstract excerpt
Tetrahydrobiopterin (BH4) responsive forms of phenylketonuria (PKU) have been recognized since 1999. Subsequent studies have shown that patients with PKU, especially those with mild mutations, respond with lower blood phenylalanine (Phe) concentrations following oral administration of 6-R-L-eryth...
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