Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency von Leuzzi, V, Carducci, Ca, Carducci, Cl, Pozzessere, S, Burlina, A, Cerone, R, Concolino, D, Donati, MA, Fiori, L, Meli, C, Ponzone, A, Porta, F, Strisciuglio, P, Antonozzi, I, Blau, N

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The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study von Leuzzi, V., Tosetti, M., Montanaro, D., Carducci, C., Artiola, C., Carducci, C., Antonozzi, I., Burroni, M., Carnevale, F., Chiarotti, F., Popolizio, T., Giannatempo, G. M., D'Alesio, V., Scarabino, T.

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The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance von Cassio, A., Corbetta, C., Antonozzi, I., Calaciura, F., Caruso, U., Cesaretti, G., Gastaldi, R., Medda, E., Mosca, F., Pasquini, E., Salerno, M. C., Stoppioni, V., Tonacchera, M., Weber, G., Olivieri, A.

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Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome von Pacifico, L, Carducci, C, Poggiogalle, E, Caravona, F, Antonozzi, I, Chiesa, C, Maggiore, G

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The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency von Leuzzi, V., Carducci, C., Carducci, C., Chiarotti, F., Artiola, C., Giovanniello, T., Antonozzi, I.

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Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome von LEUZZI, V, CARDUCCI, Ca, CARDUCCI, Cl, CARDONA, F, ARTIOLA, C, ANTONOZZI, I

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Brain creatine depletion : Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) von LEUZZI, V, BIANCHI, M. C, TOSETTI, M, CARDUCCI, C, CERQUIGLINI, A, CIONI, G, ANTONOZZI, I

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Executive function impairment in early‐treated PKU subjects with normal mental development von Leuzzi, V., Pansini, M., Sechi, E., Chiarotti, F., Carducci, Cl, Levi, G., Antonozzi, I.

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Automated high-performance liquid chromatographic method for the determination of homocysteine in plasma samples von Carducci, Claudia, Birarelli, M, Nola, M, Antonozzi, I

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Tyrosine Hydroxylase Deficiency Presenting with a Biphasic Clinical Course von Giovanniello, T., Leuzzi, V., Carducci, C., Sabato, M. L. Di, Artiola, C., Santagata, S., Pozzessere, S., Antonozzi, I.

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PP17 NON INVASIVE STOOL MARKERS IN ASSESSING BOWEL INFLAMMATION IN CHILDREN WITH INFLAMMATORY BOWEL DISEASE von Neaga, M, Nuti, F, DelGiudice, E, Civitelli, F, Viola, F, Aloi, M, Pannone, V, Di Lillo, A, Borrelli, O, Antonozzi, I, Cucchiara, S, Mariani, P

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Enhanced interpretation of newborn screening results without analyte cutoff values von Marquardt, Gregg, Currier, Robert, McHugh, David M.S., Gavrilov, Dimitar, Magera, Mark J., Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H., Tortorelli, Silvia, Turgeon, Coleman T., Lorey, Fred, Wilcken, Bridget, Greed, Lawrence C., Lewis, Barry, Schoos, Roland, Domingos, Mouseline Torquado, Sinclair, Graham, Al-Dirbashi, Osama Y., Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R., Quesada, Jonessy, Reuben, Alejandra, Hornik, Petr, Mandour, Iman Atef, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Dotsikas, Yannis, Loukas, Yannis L., Papakonstantinou, Vagelis, Zacharioudakis, Georgios S.A., Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Breen, Nancy N., Lesko, Barbara G., Berberich, Stanton L., Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Marca, Giancarlo la, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Teofoli, Francesca, Manos, Shawn M., Peterson, Colleen K., Mayfield Gibson, Stephanie K., Sevier, Darrin W., Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S., Eaton, Roger B., Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A., Stanley, Eleanor L., Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V., de Sain–Van der Velden, Monique G., Elvers, Bert, Morrissey, Mark A., Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M., McClure, Julie D., Sesser, David E., Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S. Graham, Castiñeiras Ramos, Daisy E., Fernández, Inmaculada Rueda, Egea-Mellado, José María, González-Gallego, Inmaculada, Pecellin, Carmen Delgado, Childs, Thomas, McKeever, Christine D., Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Hoffman, Gary L.

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Treatment Monitoring of Brain Creatine Deficiency Syndromes: A 1H- and 31P-MR Spectroscopy Study von Bianchi, M.C, Tosetti, M, Battini, R, Leuzzi, V, Alessandri', M.G, Carducci, C, Antonozzi, I, Cioni, G

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Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria von Leuzzi, V., Bianchi, M. C., Tosetti, M., Carducci, Cl, Carducci, Ca, Antonozzi, I.

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Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroi... von Olivieri, Antonella, Corbetta, Carlo, Weber, Giovanna, Vigone, Maria Cristina, Fazzini, Cristina, Medda, Emanuela, The Italian Study Group for Congenital Hypothyroidism

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Derangement of the dopaminergic system in phenylketonuria: Study of the event‐related potential (P300) von Leuzzi, V., Seri, S., Cerquiglini, A., Carducci, Cl, Carducci, Ca, Antonozzi, I.

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Biochemical, clinical and neuroradiological (MRI) correlations in late‐detected PKU patients von Leuzzi, V., Trasimeni, G., Gualdi, G. F., Antonozzi, I.

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High Risk of Congenital Hypothyroidism in Multiple Pregnancies von Olivieri, Antonella, Medda, Emanuela, De Angelis, Simona, Valensise, Herbert, De Felice, Mario, Fazzini, Cristina, Cascino, Isabella, Cordeddu, Viviana, Sorcini, Mariella, Stazi, Maria Antonietta

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Visual, Auditory, and Somatosensorial Evoked Potentials in Early and Late Treated Adolescents with Phenylketonuria von Leuzzi, V, Cardona, F, Antonozzi, I, Loizzo, A

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Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy von MARESCAU, B, DE DEYN, P. P, HYLAND, K, GATTI, R, KANG, S. S, LETARTE, J, LAMBERT, M, MIZUTANI, N, POSSEMIERS, I, REZVANI, I, SNYDERMAN, S. E, TERHEGGEN, H. G, LOWENTHAL, A, QURESHI, I. A, ANTONOZZI, I, BACHMANN, C, CEDERBAUM, S. D, CERONE, R, CHAMOLES, N, COLOMBO, J. P

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