Associated Papers
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Tresbach RH et al.
Genes, 2020
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.
Daniele A et al.
Biochimica Et Biophysica Acta, 2008
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
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