Alberto B Burlina (Albero Burlina, Alberto Burlina)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 42

Top Topics

Hypertrophic Cardiomyopathy

Replacement Therapy

Ultra High Performance Liquid Chromatography

Tandem Mass Spectrometry

Top Venues

International journal of neonatal screening

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto B Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan J van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? Nutrients 16 (13) (2024)
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto B Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Hatice Serap Sivri, Iris Rodenburg, Francjan J van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity. Nutrients 16 (17) (2024)
Giovanni Pintus, Nicola Vitturi, Gianni Carraro, Livia Lenzini, Giorgia Gugelmo, Ilaria Fasan, Alberto Madinelli, Alberto B Burlina, Angelo Avogaro, Lorenzo Arcangelo Calò
Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review. Journal of clinical medicine 13 (15) (2024)
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto B Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan J van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? Nutrients 16 (13) (2024)
Giovanni Pintus, Nicola Vitturi, Gianni Carraro, Livia Lenzini, Giorgia Gugelmo, Ilaria Fasan, Alberto Madinelli, Alberto B Burlina, Angelo Avogaro, Lorenzo Arcangelo Calò
Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review. Journal of clinical medicine 13 (15) (2024)
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto B Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan J van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? Nutrients 16 (13) (2024)
Alberto B Burlina, Serena Gasperini, Giancarlo la Marca, Andrea Pession, Barbara Siri, Marco Spada, Margherita Ruoppolo, Albina Tummolo
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice. Nutrients 16 (1) (2023)
Evelina Maines, Michele Moretti, Nicola Vitturi, Giorgia Gugelmo, Ilaria Fasan, Livia Lenzini, Giovanni Piccoli, Vincenza Gragnaniello, Arianna Maiorana, Massimo Soffiati, Alberto B Burlina, Roberto Franceschi
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation. Metabolites 13 (4) (2023)
Evelina Maines, Michele Moretti, Nicola Vitturi, Giorgia Gugelmo, Ilaria Fasan, Livia Lenzini, Giovanni Piccoli, Vincenza Gragnaniello, Arianna Maiorana, Massimo Soffiati, Alberto B Burlina, Roberto Franceschi
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation. Metabolites 13 (4) (2023)
Evelina Maines, Michele Moretti, Nicola Vitturi, Giorgia Gugelmo, Ilaria Fasan, Livia Lenzini, Giovanni Piccoli, Vincenza Gragnaniello, Arianna Maiorana, Massimo Soffiati, Alberto B Burlina, Roberto Franceschi
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation. Metabolites 13 (4) (2023)
Vincenza Gragnaniello, Caterina Rizzardi, Anna Commone, Daniela Gueraldi, Evelina Maines, Leonardo Salviati, Giovanni Di Salvo, Alberto B Burlina
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient. Journal of clinical medicine 12 (6) (2023)
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. International journal of neonatal screening 10 (1) (2023)
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. International journal of neonatal screening 10 (1) (2023)
Simon A Jones, David Cheillan, Anupam Chakrapani, Heather J Church, Simon Heales, Hoi Yee Teresa Wu, Georgina Morton, Patricia Roberts, Erica F Sluys, Alberto B Burlina
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20". International journal of neonatal screening 9 (1) (2023)
Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B Burlina
Newborn Screening for Fabry Disease: Current Status of Knowledge. International journal of neonatal screening 9 (2) (2023)
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. International journal of neonatal screening 10 (1) (2023)
Evelina Maines, Michele Moretti, Nicola Vitturi, Giorgia Gugelmo, Ilaria Fasan, Livia Lenzini, Giovanni Piccoli, Vincenza Gragnaniello, Arianna Maiorana, Massimo Soffiati, Alberto B Burlina, Roberto Franceschi
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation. Metabolites 13 (4) (2023)
Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B Burlina
Newborn Screening for Fabry Disease: Current Status of Knowledge. International journal of neonatal screening 9 (2) (2023)
Simon A Jones, David Cheillan, Anupam Chakrapani, Heather J Church, Simon Heales, Hoi Yee Teresa Wu, Georgina Morton, Patricia Roberts, Erica F Sluys, Alberto B Burlina
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20". International journal of neonatal screening 9 (1) (2023)
Alberto B Burlina, Serena Gasperini, Giancarlo la Marca, Andrea Pession, Barbara Siri, Marco Spada, Margherita Ruoppolo, Albina Tummolo
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice. Nutrients 16 (1) (2023)
Vincenza Gragnaniello, Caterina Rizzardi, Anna Commone, Daniela Gueraldi, Evelina Maines, Leonardo Salviati, Giovanni Di Salvo, Alberto B Burlina
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient. Journal of clinical medicine 12 (6) (2023)
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. International journal of neonatal screening 10 (1) (2023)
Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B Burlina
Newborn Screening for Fabry Disease: Current Status of Knowledge. International journal of neonatal screening 9 (2) (2023)
Alberto B Burlina, Serena Gasperini, Giancarlo la Marca, Andrea Pession, Barbara Siri, Marco Spada, Margherita Ruoppolo, Albina Tummolo
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice. Nutrients 16 (1) (2023)
Vincenza Gragnaniello, Caterina Rizzardi, Anna Commone, Daniela Gueraldi, Evelina Maines, Leonardo Salviati, Giovanni Di Salvo, Alberto B Burlina
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient. Journal of clinical medicine 12 (6) (2023)
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J A Wanders, Alberto B Burlina
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy. Orphanet journal of rare diseases 18 (1) (2023)
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto B Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience. International journal of neonatal screening 8 (3) (2022)
Francyne Kubaski, Alberto B Burlina, Danilo Pereira, Camilo Silva, Zackary M Herbst, Franciele B Trapp, Kristiane Michelin-Tirelli, Franciele F Lopes, Maira G Burin, Ana Carolina Brusius-Facchin, Alice B O Netto, Edina Poletto, Tamires M Bernardes, Gerson S Carvalho, Ney B Sorte, Fernanda N Ferreira, Nilza Perin, Marta R Clivati, Marnie T S de Santana, Sandra F G Lobos, Emilia K E A Leão, Marcelo P Coutinho, Paola V Pinos, Maria L S F Santos, Debora A Penatti, Charles M Lourenço, Giulia Polo, Roberto Giugliani
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency. Orphanet journal of rare diseases 17 (1) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Simon A Jones, David Cheillan, Anupam Chakrapani, Heather J Church, Simon Heales, Hoi Yee Teresa Wu, Georgina Morton, Patricia Roberts, Erica F Sluys, Alberto B Burlina
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. International journal of neonatal screening 8 (1) (2022)
Francyne Kubaski, Alberto B Burlina, Giulia Polo, Danilo Pereira, Zackary M Herbst, Camilo Silva, Franciele B Trapp, Kristiane Michelin-Tirelli, Franciele Fátima Lopes, Maira G Burin, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Larissa Faqueti, Gabrielle D Iop, Edina Poletto, Roberto Giugliani
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C. International journal of neonatal screening 8 (3) (2022)
Alberto B Burlina, Simon A Jones, Anupam Chakrapani, Heather J Church, Simon Heales, Teresa H Y Wu, Georgina Morton, Patricia Roberts, Erica F Sluys, David Cheillan
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes. International journal of neonatal screening 8 (2) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique Paul Germain, Alberto B Burlina
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience. Biomolecules 11 (7) (2021)
Elvira Verduci, Maria Teresa Carbone, Elisa Borghi, Emerenziana Ottaviano, Alberto B Burlina, Giacomo Biasucci
Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU): A Review. Nutrients 12 (11) (2020)
Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto B Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives. International journal of neonatal screening 6 (4) (2020)
Vincenza Gragnaniello, Daniela Gueraldi, Laura Rubert, Francesca Manzoni, Chiara Cazzorla, Antonella Giuliani, Giulia Polo, Leonardo Salviati, Alberto B Burlina
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature. International journal of neonatal screening 6 (4) (2020)
Alessandro P Burlina, Chiara Cazzorla, Pamela Massa, Christian Loro, Daniela Gueraldi, Alberto B Burlina
The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria. Nutrients 12 (7) (2020)
Florin Bösch, Markus Andreas Landolt, Matthias R Baumgartner, Nina A Zeltner, Stefan Kölker, Florian Gleich, Alberto B Burlina, Chiara Cazzorla, Wendy Packman, Ida Vanessa Döederlein Schwartz, Eduardo Vieira Neto, Márcia G Ribeiro, Diego Martinelli, Giorgia Olivieri, Martina Huemer
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. Journal of inherited metabolic disease 44 (1) (2020)
Alberto B Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P Burlina
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy. International journal of neonatal screening 5 (2) (2019)