Rivera, ICabral, AAlmeida, MLeandro, PCarmona, CEusebio, FTasso, TVilarinho, LMartins, ELechner, MCde Almeida, ITKonecki, DSLichter-Konecki, U2015-12-302015-12-302000MOLECULAR GENETICS AND METABOLISM. - Vol. 69, n. 3 (MAR 2000), p. 195-2031096-7192http://hdl.handle.net/10451/20934To understand the basis for the clinical heterogeneity of phenylalanine hydroxylase deficiency among Portuguese hyperphenylalaninemic patients, genotype-phenotype correlations were established. A group of 61 patients was completely genotyped, leading to tapplication/pdfengBiochemistry & Molecular BiologyGenetics & HeredityMedicine, Research & Experimentaljournal article