Phenylketonuria: nutritional advances and challenges
Giovannini, Marcello, Verduci, Elvira, Salvatici, Elisabetta, Paci, Sabrina, Riva, Enrica
Published in Nutrition & metabolism (03.02.2012)
Published in Nutrition & metabolism (03.02.2012)
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Journal Article
PMM2‐CDG and nephrotic syndrome: A case report
Banderali, Giuseppe, Salvatici, Elisabetta, Rovelli, Valentina, Jaeken, Jaak
Published in Clinical case reports (01.02.2022)
Published in Clinical case reports (01.02.2022)
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A Specific Prebiotic Mixture Added to Starting Infant Formula Has Long-Lasting Bifidogenic Effects
SALVINI, Filippo, RIVA, Enrica, SALVATICI, Elisabetta, BOEHM, Günther, JELINEK, Jürgen, BANDERALI, Giuseppe, GIOVANNINI, Marcello
Published in The Journal of nutrition (01.07.2011)
Published in The Journal of nutrition (01.07.2011)
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Journal Article
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis
Rovelli, Valentina, Ercoli, Vittoria, Dionigi, Alice Re, Paci, Sabrina, Salvatici, Elisabetta, Zuvadelli, Juri, Banderali, Giuseppe
Published in Molecular genetics and metabolism reports (01.09.2023)
Published in Molecular genetics and metabolism reports (01.09.2023)
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L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report
Rovelli, Valentina, Zuvadelli, Juri, Piotto, Marta, Scopari, Andrea, Dionigi, Alice Re, Ercoli, Vittoria, Paci, Sabrina, Cefalo, Graziella, Salvatici, Elisabetta, Banderali, Giuseppe
Published in Italian journal of pediatrics (28.03.2022)
Published in Italian journal of pediatrics (28.03.2022)
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Caregivers' Intention to Vaccinate Their Children Under 12 Years of Age Against COVID-19: A Cross-Sectional Multi-Center Study in Milan, Italy
Lecce, Maurizio, Milani, Gregorio Paolo, Agostoni, Carlo, D'Auria, Enza, Banderali, Giuseppe, Biganzoli, Giacomo, Castellazzi, Luca, Paramithiotti, Costanza, Salvatici, Elisabetta, Tommasi, Paola, Zuccotti, Gian Vincenzo, Marchisio, Paola, Castaldi, Silvana
Published in Frontiers in pediatrics (30.05.2022)
Published in Frontiers in pediatrics (30.05.2022)
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Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Rovelli, Valentina, Cefalo, Graziella, Ercoli, Vittoria, Zuvadelli, Juri, Olivia, Turri, Graziani, Daniela, Luisella, Alberti, Bassi, Davide, Re Dionigi, Alice, Selmi, Raed, Paci, Sabrina, Salvatici, Elisabetta, Banderali, Giuseppe
Published in Endocrinology, diabetes & metabolism (01.03.2023)
Published in Endocrinology, diabetes & metabolism (01.03.2023)
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PKU and COVID19: How the pandemic changed metabolic control
Rovelli, Valentina, Zuvadelli, Juri, Ercoli, Vittoria, Montanari, Chiara, Paci, Sabrina, Dionigi, Alice Re, Scopari, Andrea, Salvatici, Elisabetta, Cefalo, Graziella, Banderali, Giuseppe
Published in Molecular genetics and metabolism reports (01.06.2021)
Published in Molecular genetics and metabolism reports (01.06.2021)
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Journal Article
Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
Rovelli, Valentina, Zuvadelli, Juri, Paci, Sabrina, Ercoli, Vittoria, Re Dionigi, Alice, Selmi, Raed, Salvatici, Elisabetta, Cefalo, Graziella, Banderali, Giuseppe
Published in Healthcare (Basel) (20.10.2021)
Published in Healthcare (Basel) (20.10.2021)
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Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth
Manzoni, Francesca, Salvatici, Elisabetta, Burlina, Alberto, Andrews, Ashley, Pasquali, Marzia, Longo, Nicola
Published in Molecular genetics and metabolism (01.12.2020)
Published in Molecular genetics and metabolism (01.12.2020)
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella M A, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno J V, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O'Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Journal Article
PIGW‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature
Peron, Angela, Iascone, Maria, Salvatici, Elisabetta, Cavirani, Benedetta, Marchetti, Daniela, Corno, Silvia, Vignoli, Aglaia
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Journal Article
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients
Manti, Filippo, Nardecchia, Francesca, Paci, Sabrina, Chiarotti, Flavia, Carducci, Claudia, Carducci, Carla, Dalmazzone, Silvia, Cefalo, Graziella, Salvatici, Elisabetta, Banderali, Giuseppe, Leuzzi, Vincenzo
Published in Journal of inherited metabolic disease (01.11.2017)
Published in Journal of inherited metabolic disease (01.11.2017)
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Long-lasting effects of COVID-19 pandemic on hospitalizations and severity of bronchiolitis
Milani, Gregorio Paolo, Ronchi, Andrea, Agostoni, Carlo, Marchisio, Paola, Chidini, Giovanna, Pesenti, Nicola, Bellotti, Anita, Cugliari, Marco, Crimi, Riccardo, Fabiano, Valentina, Pietrasanta, Carlo, Pugni, Lorenza, Mosca, Fabio
Published in European journal of pediatrics (01.04.2024)
Published in European journal of pediatrics (01.04.2024)
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Journal Article
Mothers and fathers facing their children's phenylketonuria
Ionio, Chiara, Salvatici, Elisabetta, Confalonieri, Emanuela, Milani, Luca, Mascheroni, Eleonora, Riva, Enrica, Giovannini, Marcello
Published in Children's health care (02.01.2018)
Published in Children's health care (02.01.2018)
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Journal Article
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review
Garau, Jessica, Cavallera, Vanessa, Valente, Marialuisa, Tonduti, Davide, Sproviero, Daisy, Zucca, Susanna, Battaglia, Domenica, Battini, Roberta, Bertini, Enrico, Cappanera, Silvia, Chiapparini, Luisa, Crasà, Camilla, Crichiutti, Giovanni, Giustina, Elvio Dalla, D'Arrigo, Stefano, Giorgis, Valentina De, Simone, Micaela De, Galli, Jessica, Piana, Roberta La, Messana, Tullio, Moroni, Isabella, Nardocci, Nardo, Panteghini, Celeste, Parazzini, Cecilia, Pichiecchio, Anna, Pini, Antonella, Ricci, Federica, Saletti, Veronica, Salvatici, Elisabetta, Santorelli, Filippo M, Sartori, Stefano, Tinelli, Francesca, Uggetti, Carla, Veneselli, Edvige, Zorzi, Giovanna, Garavaglia, Barbara, Fazzi, Elisa, Orcesi, Simona, Cereda, Cristina
Published in Journal of clinical medicine (26.05.2019)
Published in Journal of clinical medicine (26.05.2019)
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