Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria

por Burlina, Alberto, Cazzorla, Chiara, Zanonato, Elisa, Viggiano, Emanuela, Fasan, Ilaria, Polo, Giulia
Publicado 2016

Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuri...

por Manti, Filippo, Caviglia, Stefania, Cazzorla, Chiara, Dicintio, Annamaria, Pilotto, Andrea, Burlina, Alessandro P.
Publicado 2022

Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with ph...

por Manti, Filippo, Caviglia, Stefania, Cazzorla, Chiara, Dicintio, Annamaria, Pilotto, Andrea, Burlina, Alessandro P.
Publicado 2023

The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria

por Burlina, Alessandro P., Cazzorla, Chiara, Massa, Pamela, Loro, Christian, Gueraldi, Daniela, Burlina, Alberto B.
Publicado 2020

Neonatal Expanded Screening toward lysosomal storage disorders

por Burlina, Alberto, Polo, Giulia, Furlan, Francesca, Del Rizzo, Monica, Celato, Andrea, Giordano, Laura, Cazzorla, Chiara
Publicado 2015

Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study

por Burlina, Alessandro P., Cazzorla, Chiara, Massa, Pamela, Polo, Giulia, Loro, Christian, Gueraldi, Daniela, Burlina, Alberto B.
Publicado 2019

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature

por Gragnaniello, Vincenza, Carraro, Silvia, Rubert, Laura, Gueraldi, Daniela, Cazzorla, Chiara, Massa, Pamela, Zanconato, Stefania, Burlina, Alberto B.
Publicado 2022

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

por Burlina, Alberto B., Polo, Giulia, Rubert, Laura, Gueraldi, Daniela, Cazzorla, Chiara, Duro, Giovanni, Salviati, Leonardo, Burlina, Alessandro P.
Publicado 2019

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

por Gragnaniello, Vincenza, Gueraldi, Daniela, Rubert, Laura, Manzoni, Francesca, Cazzorla, Chiara, Giuliani, Antonella, Polo, Giulia, Salviati, Leonardo, Burlina, Alberto
Publicado 2020

Newborn Screening for Fabry Disease: Current Status of Knowledge

por Gragnaniello, Vincenza, Burlina, Alessandro P., Commone, Anna, Gueraldi, Daniela, Puma, Andrea, Porcù, Elena, Stornaiuolo, Maria, Cazzorla, Chiara, Burlina, Alberto B.
Publicado 2023

Bone disease in early detected Gaucher Type I disease: A case report

por Gragnaniello, Vincenza, Burlina, Alessandro P., Manara, Renzo, Cazzorla, Chiara, Rubert, Laura, Gueraldi, Daniela, Toniolli, Ermanno, Quaia, Emilio, Burlina, Alberto B.
Publicado 2022

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

por Burlina, Alberto, Biasucci, Giacomo, Carbone, Maria Teresa, Cazzorla, Chiara, Paci, Sabrina, Pochiero, Francesca, Spada, Marco, Tummolo, Albina, Zuvadelli, Juri, Leuzzi, Vincenzo
Publicado 2021

Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria

por Cazzorla, Chiara, Cegolon, Luca, Burlina, Alessandro P, Celato, Andrea, Massa, Pamela, Giordano, Laura, Polo, Giulia, Daniele, Aurora, Salvatore, Francesco, Burlina, Alberto B
Publicado 2014

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

por Cazzorla, Chiara, Bensi, Giulia, Biasucci, Giacomo, Leuzzi, Vincenzo, Manti, Filippo, Musumeci, Antonella, Papadia, Francesco, Stoppioni, Vera, Tummolo, Albina, Vendemiale, Marcella, Polo, Giulia, Burlina, Alberto
Publicado 2018

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

por Gragnaniello, Vincenza, Burlina, Alessandro P, Polo, Giulia, Giuliani, Antonella, Salviati, Leonardo, Duro, Giovanni, Cazzorla, Chiara, Rubert, Laura, Maines, Evelina, Germain, Dominique P, Burlina, Alberto B
Publicado 2021

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

por Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Commone, Anna, Cazzorla, Chiara, Loro, Christian, Porcù, Elena, Stornaiuolo, Maria, Miglioranza, Paolo, Salviati, Leonardo, Wanders, Ronald J. A., Burlina, Alberto
Publicado 2023

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

por Gragnaniello, Vincenza, Pijnappel, Pim W.W.M., Burlina, Alessandro P., In 't Groen, Stijn L.M., Gueraldi, Daniela, Cazzorla, Chiara, Maines, Evelina, Polo, Giulia, Salviati, Leonardo, Di Salvo, Giovanni, Burlina, Alberto B.
Publicado 2022

Health-related quality of life in a european sample of adults with early-treated classical PKU

por Maissen-Abgottspon, Stephanie, Muri, Raphaela, Hochuli, Michel, Reismann, Péter, Barta, András Gellért, Alptekin, Ismail Mucahit, Hermida-Ameijeiras, Álvaro, Burlina, Alessandro P., Burlina, Alberto B., Cazzorla, Chiara, Carretta, Jessica, Trepp, Roman, Everts, Regula
Publicado 2023

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