Phenylalanine hydroxylase deficiency in south Italy:...

Clinica Chimica Acta 2015 / 10 Vol. 450

Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness

Trunzo, Roberta, Santacroce, Rosa, D'Andrea, Giovanna, Longo, Vittoria, De Girolamo, Giuseppe, Dimatteo, Claudia, Leccese, Angelica, Bafunno, Valeria, Lillo, Vincenza, Papadia, Francesco, Margaglione,
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Volume:
450
Language:
english
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2015.07.014
Date:
October, 2015
File:
PDF, 486 KB
english, 2015
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