Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy

por Salviati, Alessandro, Burlina, Alessandro P., Borsini, Walter
Publicado 2010

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

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

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

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

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

por Burlina, Alessandro P, Sims, Katherine B, Politei, Juan M, Bennett, Gary J, Baron, Ralf, Sommer, Claudia, Møller, Anette Torvin, Hilz, Max J
Publicado 2011

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

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

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

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

por Laney, Dawn A, Germain, Dominique P, Oliveira, João Paulo, Burlina, Alessandro P, Cabrera, Gustavo Horacio, Hong, Geu-Ru, Hopkin, Robert J, Niu, Dau-Ming, Thomas, Mark, Trimarchi, Hernán, Wilcox, William R, Politei, Juan Manuel, Ortiz, Alberto
Publicado 2020

Fabry disease and COVID-19: International expert recommendations for management based on real-world experience

por Laney, Dawn A., Germain, Dominique P., Oliveira, João Paulo, Burlina, Alessandro P., Cabrera, Gustavo H., Hong, Geu-Ru, Hopkin, Robert J., Niu, Dau-Ming, Thomas, Mark, Trimarchi, Hernán, Wilcox, William R., Politei, Juan M., Ortiz, Alberto
Publicado 2021

Diagnosis and management of glutaric aciduria type I – revised recommendations

por Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Publicado 2011