Article
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Journal of inherited metabolic disease - 1 Dec 2008
Concolino D, Muzzi G, Rapsomaniki M, Moricca M T, Pascale M G, Strisciuglio P
Abstract excerpt
Deficiency of dihydropteridine reductase causes a variant form of phenylketonuria associated with a devastating neurological disease characterized by mental retardation, hypokinesis and other features relating to basal ganglia disorder. Hyperphenylalaninaemias with tetrahydrobiopterin deficiency make up about 1-3% of all hyperphenylalaninaemias. We describe three patients from Calabria, a southern region of...
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