Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients by Bacci, Giacomo M., Donati, Maria A., Pasquini, Elisabetta, Munier, Francis, Cavicchi, Catia, Morrone, Amelia, Sodi, Andrea, Murro, Vittoria, Garcia Segarra, Nuria, Defilippi, Claudio, Bussolin, Leonardo, Caputo, Roberto

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The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs by la Marca, Giancarlo, Malvagia, Sabrina, Pasquini, Elisabetta, Innocenti, Marzia, Fernandez, Maira Rebollido, Donati, Maria Alice, Zammarchi, Enrico

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Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child by Tonin, Rodolfo, Caciotti, Anna, Funghini, Silvia, la Marca, Giancarlo, Pasquini, Elisabetta, Cayton, Erica, Mooney, Sean D., Guerrini, Renzo, Morrone, Amelia

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Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment by Cavicchi, Catia, Donati, Maria, Parini, Rossella, Rigoldi, Miriam, Bernardi, Mauro, Orfei, Francesca, Gentiloni Silveri, Nicolò, Colasante, Aniello, Funghini, Silvia, Catarzi, Serena, Pasquini, Elisabetta, la Marca, Giancarlo, Mooney, Sean, Guerrini, Renzo, Morrone, Amelia

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A genetic modifier of symptom onset in Pompe disease by Bergsma, Atze J., in 't Groen, Stijn L.M., van den Dorpel, Jan J.A., van den Hout, Hannerieke J.M.P., van der Beek, Nadine A.M.E., Schoser, Benedikt, Toscano, Antonio, Musumeci, Olimpia, Bembi, Bruno, Dardis, Andrea, Morrone, Amelia, Tummolo, Albina, Pasquini, Elisabetta, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

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PADRE MARTINI IN GIUDIZIO DA APOLLO by Pasquini, Elisabetta

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Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous... by Tonin, Rodolfo, Caciotti, Anna, Funghini, Silvia, Pasquini, Elisabetta, Mooney, Sean D., Cai, Binghuang, Proncopio, Elena, Donati, Maria Alice, Baronio, Federico, Bettocchi, Ilaria, Cassio, Alessandra, Biasucci, Giacomo, Bordugo, Andrea, la Marca, Giancarlo, Guerrini, Renzo, Morrone, Amelia

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The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program by la Marca, Giancarlo, Malvagia, Sabrina, Funghini, Silvia, Pasquini, Elisabetta, Moneti, Gloriano, Guerrini, Renzo, Zammarchi, Enrico

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Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots by Gasparotto, Nicoletta, Tomanin, Rosella, Frigo, Anna Chiara, Niizawa, Gabriela, Pasquini, Elisabetta, Blanco, Mariana, Donati, Maria Alice, Keutzer, Joan, Zacchello, Franco, Scarpa, Maurizio

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A genetic modifier of symptom onset in Pompe diseaseResearch in context by Atze J. Bergsma, Stijn L.M. in 't Groen, Jan J.A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A.M.E. van der Beek, Benedikt Schoser, Antonio Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis, Amelia Morrone, Albina Tummolo, Elisabetta Pasquini, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? by Pela, Ivana, Seracini, Daniela, Donati, Maria Alice, Lavoratti, Giancarlo, Pasquini, Elisabetta, Materassi, Marco

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GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings by Caciotti, Anna, Garman, Scott C., Rivera-Colón, Yadilette, Procopio, Elena, Catarzi, Serena, Ferri, Lorenzo, Guido, Carmen, Martelli, Paola, Parini, Rossella, Antuzzi, Daniela, Battini, Roberta, Sibilio, Michela, Simonati, Alessandro, Fontana, Elena, Salviati, Alessandro, Akinci, Gulcin, Cereda, Cristina, Dionisi-Vici, Carlo, Deodato, Francesca, d'Amico, Adele, d'Azzo, Alessandra, Bertini, Enrico, Filocamo, Mirella, Scarpa, Maurizio, di Rocco, Maja, Tifft, Cynthia J., Ciani, Federica, Gasperini, Serena, Pasquini, Elisabetta, Guerrini, Renzo, Donati, Maria Alice, Morrone, Amelia

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Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro by TRAVERSO, Monica, GAZZERRO, Elisabetta, PASQUINI, Elisabetta, DONATI, Maria A, ZARA, Federico, LISANTI, Michael P, BRUNO, Claudio, MINETTI, Carlo, ASSERETO, Stefania, SOTGIA, Federica, BIANCHERI, Roberta, STRINGARA, Silvia, GIBERTI, Laura, PEDEMONTE, Marina, XIABO WANG, SCAPOLAN, Sara

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Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential by la Marca, Giancarlo, Malvagia, Sabrina, Pasquini, Elisabetta, Cavicchi, Catia, Morrone, Amelia, Ciani, Federica, Funghini, Silvia, Villanelli, Fabio, Zammarchi, Enrico, Guerrini, Renzo

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Genetic Contributions to the Development of Complications in Preterm Newborns: e0131741 by Poggi, Chiara, Giusti, Betti, Gozzini, Elena, Sereni, Alice, Romagnuolo, Ilaria, Kura, Ada, Pasquini, Elisabetta, Abbate, Rosanna, Dani, Carlo

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Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test by Poggiali, Sara, Ombrone, Daniela, Forni, Giulia, Malvagia, Sabrina, Funghini, Silvia, Mura, Massimo, Pasquini, Elisabetta, Santoro, Laura, Bellavia, Vincenzo, Granata, Orazia Maria, Castana, Cinzia, McGreevy, Kathleen S., Aronica, Tommaso Silvano, la Marca, Giancarlo

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PADRE MARTINI IN GIUDIZIO DA APOLLO by Pasquini, Elisabetta

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Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening by Malvagia, Sabrina, la Marca, Giancarlo, Casetta, Bruno, Gasperini, Serena, Pasquini, Elisabetta, Donati, Maria Alice, Zammarchi, Enrico

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Barth syndrome presenting with acute metabolic decompensation in the neonatal period by Donati, Maria Alice, Malvagia, Sabrina, Pasquini, Elisabetta, Morrone, Amelia, Marca, Giancarlo La, Garavaglia, Barbara, Toniolo, Daniela, Zammarchi, Enrico

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Fructose-1,6-Diphosphatase Deficiency Misdiagnosed as Reye Syndrome by Zammarchi, Enrico, Donati, Maria A., Ciani, Federica, Rubetti, Pietro, Pasquini, Elisabetta

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