Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Burlina, Alberto B., Polo, Giulia, Salviati, Leonardo, Duro, Giovanni, Zizzo, Carmela, Dardis, Andrea, Bembi, Bruno, Cazzorla, Chiara, Rubert, Laura, Zordan, Roberta, Desnick, Robert J., Burlina, Alessandro P.
Published in Journal of inherited metabolic disease (01.03.2018)
Published in Journal of inherited metabolic disease (01.03.2018)
Get full text
Journal Article
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Ghezzi, Daniele, Baruffini, Enrico, Haack, Tobias B., Invernizzi, Federica, Melchionda, Laura, Dallabona, Cristina, Strom, Tim M., Parini, Rossella, Burlina, Alberto B., Meitinger, Thomas, Prokisch, Holger, Ferrero, Ileana, Zeviani, Massimo
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
Get full text
Journal Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
Get full text
Journal Article
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
Polo, Giulia, Burlina, Alessandro P., Kolamunnage, Thilini B., Zampieri, Michele, Dionisi-Vici, Carlo, Strisciuglio, Pietro, Zaninotto, Martina, Plebani, Mario, Burlina, Alberto B.
Published in Clinical chemistry and laboratory medicine (01.03.2017)
Published in Clinical chemistry and laboratory medicine (01.03.2017)
Get full text
Journal Article
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna
Published in Haematologica (Roma) (01.03.2022)
Published in Haematologica (Roma) (01.03.2022)
Get full text
Journal Article
Diagnosis and management of glutaric aciduria type I – revised recommendations
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
Published in Journal of inherited metabolic disease (01.06.2011)
Published in Journal of inherited metabolic disease (01.06.2011)
Get full text
Journal Article
The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria
Burlina, Alessandro P, Cazzorla, Chiara, Massa, Pamela, Loro, Christian, Gueraldi, Daniela, Burlina, Alberto B
Published in Nutrients (14.07.2020)
Published in Nutrients (14.07.2020)
Get full text
Journal Article
Health-related quality of life in a european sample of adults with early-treated classical PKU
Maissen-Abgottspon, Stephanie, Muri, Raphaela, Hochuli, Michel, Reismann, Péter, Barta, András Gellért, Alptekin, Ismail Mucahit, Hermida-Ameijeiras, Ãlvaro, Burlina, Alessandro P, Burlina, Alberto B, Cazzorla, Chiara, Carretta, Jessica, Trepp, Roman, Everts, Regula
Published in Orphanet journal of rare diseases (22.09.2023)
Published in Orphanet journal of rare diseases (22.09.2023)
Get full text
Journal Article
Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study
Burlina, Alessandro P, Cazzorla, Chiara, Massa, Pamela, Polo, Giulia, Loro, Christian, Gueraldi, Daniela, Burlina, Alberto B
Published in Nutrients (21.10.2019)
Published in Nutrients (21.10.2019)
Get full text
Journal Article
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience
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
Published in Biomolecules (Basel, Switzerland) (27.06.2021)
Published in Biomolecules (Basel, Switzerland) (27.06.2021)
Get full text
Journal Article
Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
Get full text
Journal Article
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
Burlina, Alberto B., Polo, Giulia, Rubert, Laura, Gueraldi, Daniela, Cazzorla, Chiara, Duro, Giovanni, Salviati, Leonardo, Burlina, Alessandro P.
Published in International journal of neonatal screening (21.06.2019)
Published in International journal of neonatal screening (21.06.2019)
Get full text
Journal Article
Galactose epimerase deficiency: lessons from the GalNet registry
Derks, Britt, Demirbas, Didem, Arantes, Rodrigo R., Banford, Samantha, Burlina, Alberto B., Cabrera, Analía, Chiesa, Ana, Couce, M. Luz, Dionisi-Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl-Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M., Timson, David J., Berry, Gerard T., Rubio-Gozalbo, M. Estela
Published in Orphanet journal of rare diseases (02.09.2022)
Published in Orphanet journal of rare diseases (02.09.2022)
Get full text
Journal Article
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient
Gragnaniello, Vincenza, Rizzardi, Caterina, Commone, Anna, Gueraldi, Daniela, Maines, Evelina, Salviati, Leonardo, Di Salvo, Giovanni, Burlina, Alberto B
Published in Journal of clinical medicine (01.03.2023)
Published in Journal of clinical medicine (01.03.2023)
Get full text
Journal Article
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature
Gragnaniello, Vincenza, Carraro, Silvia, Rubert, Laura, Gueraldi, Daniela, Cazzorla, Chiara, Massa, Pamela, Zanconato, Stefania, Burlina, Alberto B.
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
Get full text
Journal Article
Newborn screening for Pompe disease in Italy: Long-term results and future challenges
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.
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
Get full text
Journal Article
Newborn Screening for Fabry Disease: Current Status of Knowledge
Gragnaniello, Vincenza, Burlina, Alessandro P, Commone, Anna, Gueraldi, Daniela, Puma, Andrea, Porcù, Elena, Stornaiuolo, Maria, Cazzorla, Chiara, Burlina, Alberto B
Published in International journal of neonatal screening (01.06.2023)
Published in International journal of neonatal screening (01.06.2023)
Get full text
Journal Article
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
Gragnaniello, Vincenza, Cazzorla, Chiara, Gueraldi, Daniela, Puma, Andrea, Loro, Christian, Porcù, Elena, Stornaiuolo, Maria, Miglioranza, Paolo, Salviati, Leonardo, Burlina, Alessandro P, Burlina, Alberto B
Published in International journal of neonatal screening (25.12.2023)
Published in International journal of neonatal screening (25.12.2023)
Get full text
Journal Article
Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression
Burlina, Alberto B., Burlina, Alessandro P., Mignani, Renzo, Cazzorla, Chiara, Gueraldi, Daniela, Puma, Andrea, Loro, Christian, Baumgartner, Matthias R., Gragnaniello, Vincenza
Published in JIMD reports (01.03.2024)
Published in JIMD reports (01.03.2024)
Get full text
Journal Article
Bone disease in early detected Gaucher Type I disease: A case report
Gragnaniello, Vincenza, Burlina, Alessandro P., Manara, Renzo, Cazzorla, Chiara, Rubert, Laura, Gueraldi, Daniela, Toniolli, Ermanno, Quaia, Emilio, Burlina, Alberto B.
Published in JIMD reports (01.09.2022)
Published in JIMD reports (01.09.2022)
Get full text
Journal Article