A
Alessandro P. Burlina
Researcher at Yale University
Publications - 45
Citations - 1047
Alessandro P. Burlina is an academic researcher from Yale University. The author has contributed to research in topics: Fabry disease & Newborn screening. The author has an hindex of 16, co-authored 45 publications receiving 738 citations.
Papers
More filters
Journal ArticleDOI
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
L. Brun,Lock Hock Ngu,W. T. Keng,G. S. Ch'ng,Y. S. Choy,Wuh-Liang Hwu,Wang-Tso Lee,Michèl A.A.P. Willemsen,Marcel M. Verbeek,Tessa Wassenberg,Luc Régal,Simona Orcesi,Davide Tonduti,Patrizia Accorsi,H. Testard,Jose E. Abdenur,S. Tay,G. F. Allen,Simon Heales,Ilse Kern,Mitsuhiro Kato,Alessandro P. Burlina,C. Manegold,Georg F. Hoffmann,Nenad Blau +24 more
TL;DR: CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency, and treatment options are limited, in many cases not beneficial, and prognosis is uncertain.
Journal ArticleDOI
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Alberto Burlina,Giulia Polo,Leonardo Salviati,Giovanni Duro,Carmela Zizzo,Andrea Dardis,Bruno Bembi,Chiara Cazzorla,Laura Rubert,Roberta Zordan,Robert J. Desnick,Alessandro P. Burlina +11 more
TL;DR: Simultaneously determining multiple enzyme activities by MS/MS, with a focus on specific biochemical markers, successfully detected newborns with LSDs.
Journal ArticleDOI
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
Giulia Polo,Alessandro P. Burlina,Thilini B. Kolamunnage,Michele Zampieri,Carlo Dionisi-Vici,Pietro Strisciuglio,Martina Zaninotto,Mario Plebani,Alberto Burlina +8 more
TL;DR: The results demonstrate that the LC-MS/MS method can quantify different LysoSLs and can be used to identify patients with Fabry, Gaucher and Krabbe diseases, prosaposine deficiency, and Niemann-Pick disease types A/B and C (LysoSM and LysoSM-509).
Journal ArticleDOI
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
Dominique P. Germain,Eva Brand,Alessandro P. Burlina,Franco Cecchi,Scott C. Garman,Judy Kempf,Dawn Laney,Aleš Linhart,László Maródi,Kathy Nicholls,Alberto Ortiz,Federico Pieruzzi,Suma P. Shankar,Suma P. Shankar,Stephen Waldek,Christoph Wanner,Ana Jovanovic +16 more
TL;DR: The p.Asn215Ser or p.N215S GLA variant has been associated with late‐onset cardiac variant of Fabry disease.
Journal ArticleDOI
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Giovanni Duro,Carmela Zizzo,Giuseppe Cammarata,Alessandro P. Burlina,Alberto Burlina,Giulia Polo,Simone Scalia,Roberta Oliveri,Serafina Sciarrino,Daniele Francofonte,Riccardo Alessandro,Antonio Pisani,Giuseppe Palladino,Rosa Napoletano,Maurizio Tenuta,Daniele Masarone,Giuseppe Limongelli,Eleonora Riccio,Andrea Frustaci,Cristina Chimenti,Claudio Ferri,Federico Pieruzzi,Maurizio Pieroni,Marco Spada,Cinzia Castana,Marina Caserta,Ines Monte,Margherita Stefania Rodolico,Sandro Feriozzi,Yuri Battaglia,Luisa Amico,Maria Angela Losi,Camillo Autore,Marco Lombardi,Carmine Zoccali,Alessandra Testa,Maurizio Postorino,Renzo Mignani,Elisabetta Zachara,Antonello Giordano,Paolo Colomba +40 more
TL;DR: The study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, α-Gal A assay, and blood accumulation of LysoGB3, which can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease.