Development of Strategies to Decrease False Positive Results in Newborn Screening

por Malvagia, Sabrina, Forni, Giulia, Ombrone, Daniela, la Marca, Giancarlo
Publicado 2020

Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease?

por la Marca, G, Malvagia, S, Toni, S, Piccini, B, Di Ciommo, V, Bottazzo, G F
Publicado 2013

High frequency of biotinidase deficiency in Italian population identified by newborn screening

por Funghini, Silvia, Tonin, Rodolfo, Malvagia, Sabrina, Caciotti, Anna, Donati, Maria Alice, Morrone, Amelia, la Marca, Giancarlo
Publicado 2020

Data in support for the measurement of heparan sulfate and dermatan sulfate by LC–MS/MS analysis

por Forni, Giulia, Malvagia, Sabrina, Funghini, Silvia, Scolamiero, Emanuela, Mura, Massimo, Bona, Maria Della, Villanelli, Fabio, Damiano, Roberta, la Marca, Giancarlo
Publicado 2018

New clinical and molecular insights on Barth syndrome

por Ferri, Lorenzo, Donati, Maria Alice, Funghini, Silvia, Malvagia, Sabrina, Catarzi, Serena, Lugli, Licia, Ragni, Luca, Bertini, Enrico, Vaz, Frédéréc M, Cooper, David N, Guerrini, Renzo, Morrone, Amelia
Publicado 2013

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

por Catarzi, Serena, Caciotti, Anna, Thusberg, Janita, Tonin, Rodolfo, Malvagia, Sabrina, la Marca, Giancarlo, Pasquini, Elisabetta, Cavicchi, Catia, Ferri, Lorenzo, Donati, Maria A., Baronio, Federico, Guerrini, Renzo, Mooney, Sean D., Morrone, Amelia
Publicado 2013

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI)

por Filippi, Luca, Fiorini, Patrizio, Daniotti, Marta, Catarzi, Serena, Savelli, Sara, Fonda, Claudio, Bartalena, Laura, Boldrini, Antonio, Giampietri, Matteo, Scaramuzzo, Rosa, Papoff, Paola, Del Balzo, Francesca, Spalice, Alberto, la Marca, Giancarlo, Malvagia, Sabrina, Della Bona, Maria Luisa, Donzelli, Gianpaolo, Tinelli, Francesca, Cioni, Giovanni, Pisano, Tiziana, Falchi, Melania, Guerrini, Renzo
Publicado 2012

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

por Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia
Publicado 2021

Study protocol: safety and efficacy of propranolol in newborns with Retinopathy of Prematurity (PROP-ROP): ISRCTN18523491

por Filippi, Luca, Cavallaro, Giacomo, Fiorini, Patrizio, Daniotti, Marta, Benedetti, Valentina, Cristofori, Gloria, Araimo, Gabriella, Ramenghi, Luca, Torre, Agostino La, Fortunato, Pina, Pollazzi, Liliana, Marca, Giancarlo la, Malvagia, Sabrina, Bagnoli, Paola, Ristori, Chiara, Monte, Massimo Dal, Bilia, Anna Rita, Isacchi, Benedetta, Furlanetto, Sandra, Tinelli, Francesca, Cioni, Giovanni, Donzelli, Gianpaolo, Osnaghi, Silvia, Mosca, Fabio
Publicado 2010

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

por Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ines, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, MariaAnna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola
Publicado 2022