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Alberto Burlina
Researcher at University of Padua
Publications - 235
Citations - 10297
Alberto Burlina is an academic researcher from University of Padua. The author has contributed to research in topics: Medicine & Newborn screening. The author has an hindex of 49, co-authored 200 publications receiving 8534 citations. Previous affiliations of Alberto Burlina include University of Milan.
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Journal ArticleDOI
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
Charles A. Stanley,Yen K. Lieu,Betty Y.L. Hsu,Alberto Burlina,Cheryl R. Greenberg,Nancy J. Hopwood,Kusiel Perlman,Barry H. Rich,Enrico Zammarchi,Mortimer Poncz +9 more
TL;DR: The hyperinsulinism-hyperammonemia syndrome is caused by mutations in the glutamate dehydrogenase gene that impair the control of enzyme activity, consistent with overactivity of the enzyme.
Journal ArticleDOI
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle,Nathalie Boddaert,Alberto Burlina,Anupam Chakrapani,Marjorie Dixon,Martina Huemer,Daniela Karall,Diego Martinelli,Pablo Sanjurjo Crespo,René Santer,Aude Servais,Vassili Valayannopoulos,Martin Lindner,Vicente Rubio,Carlo Dionisi-Vici +14 more
TL;DR: These guidelines aim at providing a trans-European consensus to guide practitioners, set standards of care and help awareness campaigns, and help to harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.
Journal ArticleDOI
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Matthias R. Baumgartner,Friederike Hörster,Carlo Dionisi-Vici,Goknur Haliloglu,Daniela Karall,Kimberly A. Chapman,Martina Huemer,Michel Hochuli,M. Assoun,Diana Ballhausen,Alberto Burlina,Brian Fowler,Sarah C. Grünert,Stephanie Grunewald,Tomas Honzik,Begoña Merinero,Celia Pérez-Cerdá,Sabine Scholl-Bürgi,Flemming Skovby,Frits A. Wijburg,Anita MacDonald,Diego Martinelli,Jörn Oliver Sass,Vassili Valayannopoulos,Anupam Chakrapani +24 more
TL;DR: These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness, and highlight gaps in knowledge that must be filled by future research.
Journal ArticleDOI
Hepatocyte transplantation as a treatment for glycogen storage disease type 1a
Maurizio Muraca,Giorgio Enrico Gerunda,Daniele Neri,Maria-Teresa Vilei,Anna Granato,Paolo Feltracco,Muzio Meroni,Gianpiero Giron,Alberto Burlina +8 more
TL;DR: The results show that hepatocyte transplantation might be an alternative to liver transplantation in glycogen storage disease type 1a and severe fasting hypoglycaemia.
Journal ArticleDOI
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Stefan Kölker,Ernst Christensen,James V. Leonard,Cheryl R. Greenberg,Avihu Boneh,Alberto Burlina,Alessandro P. Burlina,Marjorie Dixon,Marinus Duran,Angels Garcia Cazorla,Stephen I. Goodman,David M. Koeller,Mårten Kyllerman,Chris Mühlhausen,E. Müller,Jürgen G. Okun,Bridget Wilcken,Georg F. Hoffmann,Peter Burgard +18 more
TL;DR: The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.