Alberto Burlina

Affiliations

Department of Women's and Children's Health, University of Padova, Padua, Italy.

Publications (56)

Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.

Journal of neural transmission (Vienna, Austria : 1996)

Avec: Alberto Benato , Miryam Carecchio , Alberto Burlina , Francesco Paoloni , Stefano Sartori , Margherita Nosadini , Domenico d'Avella , Andrea Landi , Angelo Antonini

Maternal germline mosaicism in Fabry disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Luigi Pianese , Antonio Fortunato , Serena Silvestri , Francesco G Solano , Alberto Burlina , Alessandro P Burlina , Michele Ragno

The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Molecular genetics and metabolism

Avec: Dominique P Germain , Michael Arad , Alessandro Burlina , Perry M Elliott , Bruno Falissard , Ulla Feldt-Rasmussen , Max J Hilz , Derralynn A Hughes , Alberto Ortiz , Christoph Wanner , Frank Weidemann , Marco Spada

Correction to: Newborn screening in mucopolysaccharidoses.

Italian journal of pediatrics

Avec: Maria Alice Donati , Elisabetta Pasquini , Marco Spada , Giulia Polo , Alberto Burlina

Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.

European journal of neurology

Avec: M Mancuso , M Arnold , A Bersano , A Burlina , H Chabriat , S Debette , C Enzinger , A Federico , A Filla , J Finsterer , D Hunt , S Lesnik Oberstein , E Tournier-Lasserve , H S Markus

PKU dietary handbook to accompany PKU guidelines.

Orphanet journal of rare diseases

Avec: A MacDonald , A M J van Wegberg , K Ahring , S Beblo , A Bélanger-Quintana , A Burlina , J Campistol , T Coşkun , F Feillet , M Giżewska , S C Huijbregts , V Leuzzi , F Maillot , A C Muntau , J C Rocha , C Romani , F Trefz , F J van Spronsen

The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.

Current medical research and opinion

Avec: Alberto Burlina , Vincenzo Leuzzi , Marco Spada , Maria Teresa Carbone , Sabrina Paci , Albina Tummolo

Trabecular complexity as an early marker of cardiac involvement in Fabry disease.

European heart journal. Cardiovascular Imaging

Avec: Antonia Camporeale , Francesco Moroni , Davide Lazzeroni , Silvia Garibaldi , Maurizio Pieroni , Federico Pieruzzi , Paola Lusardi , Marco Spada , Renzo Mignani , Alessandro Burlina , Francesca Carubbi , Laura Econimo , Yuri Battaglia , Francesca Graziani , Silvia Pica , Kelvin Chow , Paolo G Camici , Massimo Lombardi

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

Molecular genetics and metabolism

Avec: R A F Evers , A M J van Wegberg , K Ahring , S Beblo , A Bélanger-Quintana , A M Bosch , A Burlina , J Campistol , T Coskun , F Feillet , M Giżewska , S C J Huijbregts , S Kearney , M Langeveld , V Leuzzi , F Maillot , A C Muntau , J C Rocha , C Romani , F K Trefz , A MacDonald , F J van Spronsen

ECG-based score estimates the probability to detect Fabry Disease cardiac involvement.

International journal of cardiology

Avec: Stefano Figliozzi , Antonia Camporeale , Sara Boveri , Federico Pieruzzi , Maurizio Pieroni , Paola Lusardi , Marco Spada , Renzo Mignani , Alessandro Burlina , Francesca Graziani , Silvia Pica , Lara Tondi , Andrea Bernardini , Kelvin Chow , Mehdi Namdar , Massimo Lombardi

Seroprevalence of SARS-CoV-2 antibodies in Italy in newborn dried blood spots.

Clinical chemistry and laboratory medicine

Avec: Luisa Galla , Chiara Cosma , Michela Bertan , Sara Altinier , Martina Zaninotto , Daniela Basso , Alberto Burlina , Andrea Padoan , Mario Plebani

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.

International journal of neonatal screening

Avec: Simon A Jones , David Cheillan , Anupam Chakrapani , Heather J Church , Simon Heales , Teresa H Y Wu , Georgina Morton , Patricia Roberts , Erica F Sluys , Alberto Burlina

GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.

Orphanet journal of rare diseases

Avec: Andrea Pession , Maja Di Rocco , Francesco Venturelli , Barbara Tappino , William Morello , Nicola Santoro , Paola Giordano , Beatrice Filippini , Simona Rinieri , Giovanna Russo , Katia Girardi , Antonio Ruggiero , Eulalia Galea , Roberto Antonucci , Nicola Tovaglieri , Fulvio Porta , Immacolata Tartaglione , Fiorina Giona , Franca Fagioli , Alberto Burlina , Auteur inconnu

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.

Journal of inherited metabolic disease

Avec: François Feillet , Jean-Baptiste Arnoux , María Bueno Delgado , Alberto Burlina , Brigitte Chabrol , Ece Kucuksayrac , Florian B Lagler , Ania C Muntau , David Olsson , Sabrina Paci , Frank Rutsch , Francjan J van Spronsen , Auteur inconnu

Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.

Italian journal of pediatrics

Avec: Francesco Porta , Arianna Maiorana , Vincenza Gragnaniello , Elena Procopio , Serena Gasperini , Roberta Taurisano , Marco Spada , Carlo Dionisi-Vici , Alberto Burlina

The Genetic Landscape and Epidemiology of Phenylketonuria.

American journal of human genetics

Avec: Alicia Hillert , Yair Anikster , Amaya Belanger-Quintana , Alberto Burlina , Barbara K Burton , Carla Carducci , Ana E Chiesa , John Christodoulou , Maja Đorđević , Lourdes R Desviat , Aviva Eliyahu , Roeland A F Evers , Lena Fajkusova , François Feillet , Pedro E Bonfim-Freitas , Maria Giżewska , Polina Gundorova , Daniela Karall , Katya Kneller , Sergey I Kutsev , Vincenzo Leuzzi , Harvey L Levy , Uta Lichter-Konecki , Ania C Muntau , Fares Namour , Mariusz Oltarzewski , Andrea Paras , Belen Perez , Emil Polak , Alexander V Polyakov , Francesco Porta , Marianne Rohrbach , Sabine Scholl-Bürgi , Norma Spécola , Maja Stojiljković , Nan Shen , Luiz C Santana-da Silva , Anastasia Skouma , Francjan van Spronsen , Vera Stoppioni , Beat Thöny , Friedrich K Trefz , Jerry Vockley , Youngguo Yu , Johannes Zschocke , Georg F Hoffmann , Sven F Garbade , Nenad Blau

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH

Orphanet journal of rare diseases

Avec: Thomas Opladen , Eduardo López-Laso , Elisenda Cortès-Saladelafont , Toni S Pearson , H Serap Sivri , Yilmaz Yildiz , Birgit Assmann , Manju A Kurian , Vincenzo Leuzzi , Simon Heales , Simon Pope , Francesco Porta , Angeles García-Cazorla , Tomáš Honzík , Roser Pons , Luc Regal , Helly Goez , Rafael Artuch , Georg F Hoffmann , Gabriella Horvath , Beat Thöny , Sabine Scholl-Bürgi , Alberto Burlina , Marcel M Verbeek , Mario Mastrangelo , Jennifer Friedman , Tessa Wassenberg , Kathrin Jeltsch , Jan Kulhánek , Oya Kuseyri Hübschmann , Auteur inconnu

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

Nutrients

Avec: Elvira Verduci , Maria Teresa Carbone , Elisa Borghi , Emerenziana Ottaviano , Alberto Burlina , Giacomo Biasucci

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

Molecular genetics and metabolism

Avec: D Moreno-Martinez , P Aguiar , C Auray-Blais , M Beck , D G Bichet , A Burlina , D Cole , P Elliott , U Feldt-Rasmussen , S Feriozzi , J Fletcher , R Giugliani , A Jovanovic , C Kampmann , M Langeveld , O Lidove , A Linhart , M Mauer , J C Moon , A Muir , A Nowak , J P Oliveira , A Ortiz , G Pintos-Morell , J Politei , P Rozenfeld , R Schiffmann , E Svarstad , A S Talbot , M Thomas , C Tøndel , D Warnock , M L West , D A Hughes

Italian national consensus statement on management and pharmacological treatment of phenylketonuria.

Orphanet journal of rare diseases

Avec: Alberto Burlina , Giacomo Biasucci , Maria Teresa Carbone , Chiara Cazzorla , Sabrina Paci , Francesca Pochiero , Marco Spada , Albina Tummolo , Juri Zuvadelli , Vincenzo Leuzzi

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

Orphanet journal of rare diseases

Avec: Francyne Kubaski , Alberto 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

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

European review for medical and pharmacological sciences

Avec: A Burlina , I Bettocchi , G Biasucci , A Bordugo , S Gasperini , L La Spina , E Maines , C Meli , F Menni , S Paci , E Procopio , A Rossi , L Rubert , M Spada , F Tubili , A Tummolo

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

Avec: 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 Burlina

Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).

Molecular genetics and metabolism reports

Avec: Iris Scala , Lucia Brodosi , Valentina Rovelli , Davide Noto , Alberto Burlina

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.

Journal of inherited metabolic disease

Avec: François Feillet , Can Ficicioglu , Florian B Lagler , Nicola Longo , Ania C Muntau , Alberto Burlina , Friedrich K Trefz , Francjan J van Spronsen , Jean-Baptiste Arnoux , Kristin Lindstrom , Joshua Lilienstein , Gillian E Clague , Richard Rowell , Barbara K Burton , Auteur inconnu

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.

International journal of neonatal screening

Avec: Francyne Kubaski , Inês Sousa , Tatiana Amorim , Danilo Pereira , Joe Trometer , Alexandre Souza , Enzo Ranieri , Giulia Polo , Alberto Burlina , Ana Carolina Brusius-Facchin , Alice Brinckmann Oliveira Netto , Shunji Tomatsu , Roberto Giugliani

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

Avec: Florin Bösch , Markus A Landolt , Matthias R Baumgartner , Nina Zeltner , Stefan Kölker , Florian Gleich , Alberto Burlina , Chiara Cazzorla , Wendy Packman , Ida V D Schwartz , Eduardo Vieira Neto , Márcia G Ribeiro , Diego Martinelli , Giorgia Olivieri , Martina Huemer

Correction to: PKU dietary handbook to accompany PKU guidelines.

Orphanet journal of rare diseases

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Orphanet journal of rare diseases

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Journal of inherited metabolic disease

Avec: Mareike Keller , Heiko Brennenstuhl , Oya Kuseyri Hübschmann , Filippo Manti , Natalia Alexandra Julia Palacios , Jennifer Friedman , Yılmaz Yıldız , Jeanette Aimee Koht , Suet-Na Wong , Dimitrios I Zafeiriou , Eduardo López-Laso , Roser Pons , Jan Kulhánek , Kathrin Jeltsch , Jesus Serrano-Lomelin , Sven F Garbade , Thomas Opladen , Helly Goez , Auteur inconnu , Alberto Burlina , Elisenda Cortès-Saladelafont , Joaquín Alejandro Fernández Ramos , Angeles García-Cazorla , Georg F Hoffmann , Stacey Tay Kiat Hong , Tomáš Honzík , Ivana Kavecan , Manju A Kurian , Vincenzo Leuzzi , Thomas Lücke , Francesca Manzoni , Mario Mastrangelo , Saadet Mercimek-Andrews , Pablo Mir , Mari Oppebøen , Toni S Pearson , H Serap Sivri , Dora Steel , Galina Stevanović , Cheuk-Wing Fung

Phenylketonuria.

Nature reviews. Disease primers

Avec: Francjan J van Spronsen , Nenad Blau , Cary Harding , Alberto Burlina , Nicola Longo , Annet M Bosch

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism.

Frontiers in physiology

Avec: Chiara Montanari , Sara Parolisi , Elisa Borghi , Lorenza Putignani , Giulia Bassanini , Juri Zuvadelli , Cristina Bonfanti , Albina Tummolo , Carlo Dionisi Vici , Giacomo Biasucci , Alberto Burlina , Maria Teresa Carbone , Elvira Verduci

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

International journal of neonatal screening

Avec: Simon A Jones , David Cheillan , Anupam Chakrapani , Heather J Church , Simon Heales , Teresa H Y Wu , Georgina Morton , Patricia Roberts , Erica F Sluys , Alberto Burlina

The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion.

Molecular genetics and metabolism

Avec: Giacomo Biasucci , Lucia Brodosi , Ilaria Bettocchi , Davide Noto , Francesca Pochiero , Maria Letizia Urban , Alberto Burlina

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

Avec: Francyne Kubaski , Alberto Burlina , Giulia Polo , Danilo Pereira , Zackary M Herbst , Camilo Silva , Franciele B Trapp , Kristiane Michelin-Tirelli , Franciele F Lopes , Maira G Burin , Ana Carolina Brusius-Facchin , Alice B O Netto , Larissa Faqueti , Gabrielle D Iop , Edina Poletto , Roberto Giugliani

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.

Molecular genetics and metabolism

Avec: Sarah C Grünert , Matthias Gautschi , Joshua Baker , Monica Boyer , Alberto Burlina , Thomas Casswall , Willemijn Corpeleijn , Kismet Çıki , Melanie Cotter , Ellen Crushell , Terry G J Derks , Dorothea Haas , Sebile Kilavuz , Sandra D K Kingma , Stanley H Korman , Anne Kozek , Corinne de Laet , Helen Mundy , Marie Cecile Nassogne , Victor Quintero , Alessandro Rossi , Johannes Spenger , Ronen Spiegel , Xavier Stephenne , Darko Stojkov , Galit Tal , Maria Veiga-da Cunha , Saskia B Wortmann

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

Frontiers in pediatrics

Avec: Mariangela Martino , Jacopo Sartorelli , Vincenza Gragnaniello , Alberto Burlina

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.

Journal of inherited metabolic disease

Avec: Ulrike Mütze , Florian Gleich , Ivo Barić , Mathias Baumgartner , Alberto Burlina , Kimberly A Chapman , Yin-Hsiu Chien , Elisenda Cortès-Saladelafont , Corinne De Laet , Dries Dobbelaere , Francois Eysken , Matthias Gautschi , Rene Santer , Johannes Häberle , Clara Joaquín , Daniela Karall , Martin Lindner , Allan M Lund , Chris Mühlhausen , Elaine Murphy , Dominique Roland , Angeles Ruiz Gomez , Anastasia Skouma , Sarah C Grünert , Margreet Wagenmakers , Sven F Garbade , Stefan Kölker , Nikolas Boy

Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice.

Nutrients

Avec: Albero Burlina , Serena Gasperini , Giancarlo la Marca , Andrea Pession , Barbara Siri , Marco Spada , Margherita Ruoppolo , Albina Tummolo

Acute revascularization treatments for ischemic stroke in the Stroke Units of Triveneto, northeast Italy: time to treatment and functional outcomes.

Journal of thrombosis and thrombolysis

Avec: Manuel Cappellari , Bruno Bonetti , Stefano Forlivesi , Giulia Sajeva , Marcello Naccarato , Paola Caruso , Simone Lorenzut , Giovanni Merlino , Federica Viaro , Alessio Pieroni , Bruno Giometto , Valeria Bignamini , Francesco Perini , Antonella De Boni , Michele Morra , Adriana Critelli , Carmine Tamborino , Simone Tonello , Silvia Vittoria Guidoni , Roberto L'Erario , Monia Russo , Alessandro Burlina , Emanuele Turinese , Paolo Passadore , Luca Zanet , Alberto Polo , Michelangelo Turazzini , Anna Maria Basile , Matteo Atzori , Bruno Marini , Martina Bruno , Simona Carella , Alessandro Campagnaro , Antonio Baldi , Elisa Corazza , Giampietro Zanette , Domenico Idone , Anna Gaudenzi , Roberto Bombardi , Morena Cadaldini , Salvatore Lanzafame , Franco Ferracci , Sandro Zambito , Giampietro Ruzza , Marco Simonetto , Elisabetta Menegazzo , Maela Masato , Roberta Padoan , Giulio Bozzato , Francesco Paladin , Agnese Tonon , Paolo Bovi

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Molecular genetics and metabolism

Avec: Filippo Manti , Francesca Nardecchia , Giuseppe Banderali , Alberto Burlina , Carla Carducci , Claudia Carducci , Maria Alice Donati , Daniela Gueraldi , Sabrina Paci , Francesca Pochiero , Francesco Porta , Rita Ortolano , Valentina Rovelli , Maria Cristina Schiaffino , Marco Spada , Nenad Blau , Vincenzo Leuzzi

The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.

Journal of inherited metabolic disease

Avec: Alessandro P Burlina , Robin H Lachmann , Renzo Manara , Chiara Cazzorla , Andrea Celato , Francjan J van Spronsen , Alberto Burlina

Predictors of Clinical Evolution in Prehypertrophic Fabry Disease.

Circulation. Cardiovascular imaging

Avec: Antonia Camporeale , Maurizio Pieroni , Federico Pieruzzi , Paola Lusardi , Silvia Pica , Marco Spada , Renzo Mignani , Alessandro Burlina , Francesco Bandera , Marco Guazzi , Francesca Graziani , Filippo Crea , Adreas Greiser , Sara Boveri , Federico Ambrogi , Massimo Lombardi

Intravenous thrombolysis for ischemic stroke in the Veneto region: the gap between eligibility and reality.

Journal of thrombosis and thrombolysis

Avec: Stefano Forlivesi , Manuel Cappellari , Claudio Baracchini , Federica Viaro , Adriana Critelli , Carmine Tamborino , Simone Tonello , Silvia Vittoria Guidoni , Martina Bruno , Silvia Favaretto , Alessandro Burlina , Emanuele Turinese , Franco Ferracci , Sandro Zambito Marsala , Salvatrice Bazzano , Federica Orlando , Michelangelo Turazzini , Silvia Ricci , Morena Cadaldini , Floriana De Biasia , Sandro Bruno , Anna Gaudenzi , Michele Morra , Alessandra Danese , Roberto L'Erario , Monia Russo , Giampietro Zanette , Domenico Idone , Anna Maria Basile , Matteo Atzori , Maela Masato , Elisabetta Menegazzo , Francesco Paladin , Agnese Tonon , Giorgio Caneve , Giulio Bozzato , Alessandro Campagnaro , Simona Carella , Piero Nicolao , Roberta Padoan , Francesco Perini , Antonella De Boni , Alessandro Adami , Bruno Bonetti , Paolo Bovi

Opinion, knowledge, and clinical experience with functional neurological disorders among Italian neurologists: results from an online survey.

Journal of neurology

Avec: Michele Tinazzi , Mirta Fiorio , Alfredo Berardelli , Bruno Bonetti , Domenico Marco Bonifati , Alessandro Burlina , Annachiara Cagnin , Francesca Calabria , Maurizio Corbetta , Pietro Cortelli , Bruno Giometto , Silvia Vittoria Guidoni , Leonardo Lopiano , Gianluigi Mancardi , Fabio Marchioretto , Maria Pellegrini , Francesco Teatini , Gioacchino Tedeschi , Lucia Tesolin , Emanuele Turinese , Mario Zappia , Angela Marotta

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Parkinsonism & related disorders

Avec: Filippo Manti , Francesca Nardecchia , Sabina Barresi , Martina Venditti , Simone Pizzi , Fadi F Hamdan , Nenad Blau , Alberto Burlina , Marco Tartaglia , Vincenzo Leuzzi

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.

Molecular genetics and metabolism

Avec: Alberto Burlina , Antonella Giuliani , Giulia Polo , Daniela Gueraldi , Vincenza Gragnaniello , Chiara Cazzorla , Thomas Opladen , Georg Hoffmann , Nenad Blau , Alessandro P Burlina

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

Molecular genetics and metabolism

Avec: Francesca Manzoni , Elisabetta Salvatici , Alberto Burlina , Ashley Andrews , Marzia Pasquali , Nicola Longo

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

International journal of neonatal screening

Avec: Vincenza Gragnaniello , Daniela Gueraldi , Laura Rubert , Francesca Manzoni , Chiara Cazzorla , Antonella Giuliani , Giulia Polo , Leonardo Salviati , Alberto Burlina

A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.

International journal of neonatal screening

Avec: Alberto Burlina , Simon A Jones , Anupam Chakrapani , Heather J Church , Simon Heales , Teresa H Y Wu , Georgina Morton , Patricia Roberts , Erica F Sluys , David Cheillan

Bone Remodeling in an Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy.

Endocrine, metabolic & immune disorders drug targets

Avec: Albina Tummolo , Giacomina Brunetti , Laura Piacente , Antonio Marzollo , Alessandra Biffi , Alberto Burlina , Maria Felicia Faienza

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

Orphanet journal of rare diseases

Avec: Ania C Muntau , Alberto Burlina , François Eyskens , Peter Freisinger , Vincenzo Leuzzi , Hatice Serap Sivri , Gwendolyn Gramer , Renata Pazdírková , Maureen Cleary , Amelia S Lotz-Havla , Paul Lane , Ignacio Alvarez , Frank Rutsch

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.

Italian journal of pediatrics

Avec: Vincenza Gragnaniello , Federica Deodato , Serena Gasperini , Maria Alice Donati , Clementina Canessa , Simona Fecarotta , Antonia Pascarella , Giuseppe Spadaro , Daniela Concolino , Alberto Burlina , Giancarlo Parenti , Pietro Strisciuglio , Agata Fiumara , Roberto Della Casa

An expert consensus on the recommendations for the use of biomarkers in Fabry disease.

Molecular genetics and metabolism

Avec: Alessandro Burlina , Eva Brand , Derralynn Hughes , Ilkka Kantola , Johannes Krӓmer , Albina Nowak , Camilla Tøndel , Christoph Wanner , Marco Spada

Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.

International journal of neonatal screening

Avec: Michael H Gelb , Khaja Basheeruddin , Alberto Burlina , Hsiao-Jan Chen , Yin-Hsiu Chien , George Dizikes , 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

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.

Internal and emergency medicine

Avec: Maurizio Scarpa , Antonio Barbato , Annalisa Bisconti , Alberto Burlina , Daniela Concolino , Federica Deodato , Maja Di Rocco , Carlo Dionisi-Vici , Maria Alice Donati , Simona Fecarotta , Agata Fiumara , Carlotta Galeone , Fiorina Giona , Gaetano Giuffrida , Raffaele Manna , Paolo Mariani , Andrea Pession , Annalisa Scopinaro , Marco Spada , Federico Spandonaro , Gianluca Trifirò , Francesca Carubbi , Maria Domenica Cappellini

Réseau de co-auteurs

Marco Spada 12 collaborations

Vincenzo Leuzzi 9 collaborations

Alessandro Burlina 8 collaborations

Giulia Polo 6 collaborations

A Burlina 6 collaborations

None None 6 collaborations

Vincenza Gragnaniello 6 collaborations

Chiara Cazzorla 6 collaborations

Albina Tummolo 5 collaborations

Simon Heales 5 collaborations

Francesco Porta 5 collaborations

Nenad Blau 5 collaborations

Maria Alice Donati 4 collaborations

Maria Teresa Carbone 4 collaborations

Sabrina Paci 4 collaborations

Ania C Muntau 4 collaborations

Francjan J van Spronsen 4 collaborations

Georg F Hoffmann 4 collaborations

Thomas Opladen 4 collaborations

Elisenda Cortès-Saladelafont 4 collaborations

Giacomo Biasucci 4 collaborations

Francyne Kubaski 4 collaborations

Roberto Giugliani 4 collaborations

Daniela Gueraldi 4 collaborations

Alessandro P Burlina 3 collaborations

A MacDonald 3 collaborations

A M J van Wegberg 3 collaborations

K Ahring 3 collaborations

S Beblo 3 collaborations

A Bélanger-Quintana 3 collaborations

J Campistol 3 collaborations

F Feillet 3 collaborations

M Giżewska 3 collaborations

V Leuzzi 3 collaborations

F Maillot 3 collaborations

A C Muntau 3 collaborations

J C Rocha 3 collaborations

C Romani 3 collaborations

F J van Spronsen 3 collaborations

Antonia Camporeale 3 collaborations

Maurizio Pieroni 3 collaborations

Federico Pieruzzi 3 collaborations

Paola Lusardi 3 collaborations

Renzo Mignani 3 collaborations

Francesca Graziani 3 collaborations

Silvia Pica 3 collaborations

Massimo Lombardi 3 collaborations

Simon A Jones 3 collaborations

David Cheillan 3 collaborations

Anupam Chakrapani 3 collaborations

Heather J Church 3 collaborations

Teresa H Y Wu 3 collaborations

Georgina Morton 3 collaborations

Patricia Roberts 3 collaborations

Erica F Sluys 3 collaborations

Andrea Pession 3 collaborations

François Feillet 3 collaborations

Serena Gasperini 3 collaborations

Sabine Scholl-Bürgi 3 collaborations

Beat Thöny 3 collaborations

Sven F Garbade 3 collaborations

Eduardo López-Laso 3 collaborations

Toni S Pearson 3 collaborations

H Serap Sivri 3 collaborations

Manju A Kurian 3 collaborations

Angeles García-Cazorla 3 collaborations

Tomáš Honzík 3 collaborations

Roser Pons 3 collaborations

Helly Goez 3 collaborations

Mario Mastrangelo 3 collaborations

Jennifer Friedman 3 collaborations

Kathrin Jeltsch 3 collaborations

Jan Kulhánek 3 collaborations

Oya Kuseyri Hübschmann 3 collaborations

Francesca Pochiero 3 collaborations

Danilo Pereira 3 collaborations

Ana Carolina Brusius-Facchin 3 collaborations

Nicola Longo 3 collaborations

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T Coşkun 2 collaborations

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Paul Lane 1 collaboration

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