Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening

por Burlina, Alberto B., Corsello, Giovanni
Publicado 2015

Food triggers and inherited metabolic disorders: a challenge to the pediatrician

por Maines, Evelina, Di Palma, Annunziata, Burlina, Alberto
Publicado 2018

Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques

por Martino, Mariangela, Sartorelli, Jacopo, Gragnaniello, Vincenza, Burlina, Alberto
Publicado 2022

Newborn screening in mucopolysaccharidoses

por Donati, Maria Alice, Pasquini, Elisabetta, Spada, Marco, Polo, Giulia, Burlina, Alberto
Publicado 2018

Correction to: Newborn screening in mucopolysaccharidoses

por Donati, Maria Alice, Pasquini, Elisabetta, Spada, Marco, Polo, Giulia, Burlina, Alberto
Publicado 2019

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

Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

por Fusco, Carlo, Leuzzi, Vincenzo, Striano, Pasquale, Battini, Roberta, Burlina, Alberto, Spagnoli, Carlotta
Publicado 2021

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

por Di Meo, Ivano, Auricchio, Alberto, Lamperti, Costanza, Burlina, Alberto, Viscomi, Carlo, Zeviani, Massimo
Publicado 2012

Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

por Reyes, Aurelio, Melchionda, Laura, Burlina, Alberto, Robinson, Alan J, Ghezzi, Daniele, Zeviani, Massimo
Publicado 2018

Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU): A Review

por Verduci, Elvira, Carbone, Maria Teresa, Borghi, Elisa, Ottaviano, Emerenziana, Burlina, Alberto, Biasucci, Giacomo
Publicado 2020

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

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria...

por Regnault, Antoine, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Benmedjahed, Khadra, Bosch, Annet M
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

Apparent diffusion coefficient restriction in the white matter: going beyond acute brain territorial ischemia

por Citton, Valentina, Burlina, Alberto, Baracchini, Claudio, Gallucci, Massimo, Catalucci, Alessia, Dal Pos, Sandro, Burlina, Alessandro, Manara, Renzo
Publicado 2011

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

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

por Gragnaniello, Vincenza, Rizzardi, Caterina, Commone, Anna, Gueraldi, Daniela, Maines, Evelina, Salviati, Leonardo, Di Salvo, Giovanni, Burlina, Alberto B.
Publicado 2023

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

por Bosch, Annet M, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Koledova, Ekaterina, Benmedjahed, Khadra, Regnault, Antoine
Publicado 2015

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