Publications by authors named "Alessandro P Burlina"

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Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.
Chiara Cazzorla, Vincenza Gragnaniello, Giacomo Gaiga, Daniela Gueraldi, Andrea Puma, Alessandro P Burlina, Alberto B Burlina

Int J Neonatal Screen· February 2025

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Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients.
Alessandro P Burlina, Renzo Manara, Jessica Carretta, Chiara Cazzorla, Christian Loro, Alberto B Burlina

Eur J Neurol· December 2024

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Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Alessandro P Burlina, Alberto B Burlina

Int J Neonatal Screen· December 2024

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Lysosomal storage diseases.
Alessandro P Burlina, Renzo Manara, Daniela Gueraldi

Handb Clin Neurol· September 2024

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Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.
Alberto B Burlina, Alessandro P Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi

JIMD Rep· March 2024

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Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Alessandro P Burlina, Alberto B Burlina

Int J Neonatal Screen· December 2023

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Health-related quality of life in a european sample of adults with early-treated classical PKU.
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Alessandro P Burlina, Alberto B Burlina

Orphanet J Rare Dis· September 2023

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Long-term follow-up of a patient with neonatal form of Gaucher disease.
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Pamela Massa, Alessandro P Burlina, Alberto B Burlina

Am J Med Genet A· July 2023

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Newborn Screening for Fabry Disease: Current Status of Knowledge.
Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Alberto B Burlina

Int J Neonatal Screen· June 2023

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Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P Burlina

Orphanet J Rare Dis· March 2023

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Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Robert J Hopkin, Gustavo H Cabrera, John L Jefferies, Meng Yang, Elvira Ponce, Alessandro P Burlina

Mol Genet Metab· February 2023

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Vincenza Gragnaniello, Pim W W M Pijnappel, Alessandro P Burlina, Stijn L M In 't Groen, Daniela Gueraldi, Alberto B Burlina

Mol Genet Metab Rep· December 2022

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Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P Burlina

Orphanet J Rare Dis· December 2022

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Bone disease in early detected Gaucher Type I disease: A case report.
Vincenza Gragnaniello, Alessandro P Burlina, Renzo Manara, Chiara Cazzorla, Laura Rubert, Alberto B Burlina

JIMD Rep· September 2022

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Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Alberto B Burlina

Biomolecules· June 2021

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Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Alberto Burlina, Antonella Giuliani, Giulia Polo, Daniela Gueraldi, Vincenza Gragnaniello, Alessandro P Burlina

Mol Genet Metab· May 2021

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Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.
Dawn A Laney, Dominique P Germain, João Paulo Oliveira, Alessandro P Burlina, Gustavo Horacio Cabrera

Clin Kidney J· December 2020

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The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
Giulia Polo, Daniela Gueraldi, Antonella Giuliani, Laura Rubert, Chiara Cazzorla, Alessandro P Burlina, Alberto B Burlina

Clin Chem Lab Med· November 2020

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The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.
Alessandro P Burlina, Chiara Cazzorla, Pamela Massa, Christian Loro, Daniela Gueraldi, Alberto B Burlina

Nutrients· July 2020

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Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
Giulia Polo, Alessandro P Burlina, Enzo Ranieri, Francesca Colucci, Laura Rubert, Alberto B Burlina

Clin Chem Lab Med· November 2019

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Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study.
Alessandro P Burlina, Chiara Cazzorla, Pamela Massa, Giulia Polo, Christian Loro, Alberto B Burlina

Nutrients· October 2019

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Maternal germline mosaicism in Fabry disease.
Luigi Pianese, Antonio Fortunato, Serena Silvestri, Francesco G Solano, Alberto Burlina, Alessandro P Burlina

Neurol Sci· June 2019

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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Alberto B Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Alessandro P Burlina

Int J Neonatal Screen· June 2019

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The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.
Alessandro P Burlina, Robin H Lachmann, Renzo Manara, Chiara Cazzorla, Andrea Celato, Alberto Burlina

J Inherit Metab Dis· March 2019

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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Alessandro P Burlina

J Inherit Metab Dis· March 2018

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