Article
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Journal of inherited metabolic disease - 1 Jan 2013
Sterl Elisabeth, Paul Karl, Paschke Eduard, Zschocke Johannes, Brunner-Krainz Michaela, Windisch Eva, Konstantopoulou Vassiliki, Möslinger Dorothea, Karall Daniela, Scholl-Bürgi Sabine, Sperl Wolfgang, Lagler Florian, Plecko Barbara
Abstract excerpt
Phenylketonuria (PKU, MIM 261600) is an autosomal recessive disorder caused by mutations of the phenylalanine hydroxylase gene (PAH, GenBank U49897.1, RefSeq NM_000277). To date more than 560 variants of the PAH gene have been identified. In Europe there is regional distribution of specific mutations. Due to recent progress in chaperone therapy, the prevalence of BH4-responsive alleles gained therapeutic...
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