Search Results - "Palillo, L."

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population by Romano, V., Guldberg, P., Güttler, F., Meli, C., Mollica, F., Pavone, L., Giovannini, M., Riva, E., Biasucci, G., Luotti, D., Palillo, L., Calí, F., Ceratto, N., Anello, G., Bosco, P.

“…Summary The results of the neonatal screening for phenylalanine hydroxylase (PAH) deficiency in Sicily show that its incidence is higher than previously…”
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High Risk of Congenital Hypothyroidism in Multiple Pregnancies by Olivieri, Antonella, Medda, Emanuela, De Angelis, Simona, Valensise, Herbert, De Felice, Mario, Fazzini, Cristina, Cascino, Isabella, Cordeddu, Viviana, Sorcini, Mariella, Stazi, Maria Antonietta

“…Context: In Italy, the surveillance of congenital hypothyroidism (CH) is performed by the Italian National Registry of Infants with CH (INRICH). Up to now,…”
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The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism by Olivieri, Antonella

“…All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry…”
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PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis by Mirisola, Mario G., Cali, Francesco, Gloria, Angelo, Schinocca, Pietro, D'Amato, Monica, Cassara, Georgia, Leo, Giacomo De, Palillo, Letizia, Meli, Concetta, Romano, Valentino

“…The molecular basis of PAH deficiency in the Sicilian population is characterized by a marked heterogeneity, with 44 mutations at a single locus identified by…”
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Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia by Bosco, Paolo, Calì, Francesco, Meli, Concetta, Mollica, Florindo, Zammarchi, Enrico, Cerone, Roberto, Vanni, Cristina, Palillo, Letizia, Greco, Donatella, Romano, Valentino

“…This report identifies eight new mutations of the phenylalanine hydroxylase gene detected in Italian patients with hyperphenylalaninemia. The trivial name of…”
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Better health through better rice by ORTANEZ, J, PALILLO, L

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