Associated Papers
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
Zhang X et al.
Gene, 2019
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.
Giannattasio S et al.
Human Heredity, 2001
Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.
Rottoli A et al.
Journal of Medical Screening, 1999
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
Guzzetta V et al.
Journal of Inherited Metabolic Disease, 1997
Science, medicine and phenylketonuria.
Scriver CR
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
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