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Alberto Burlina

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Italy

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TOP 3
Flavio Faletra; Federico Fornasier; Francesca Furlan; Emmanouil Athanasakis; Xevi Biarnés; Arianna Boiani; Alberto Burlina; Carlo Dionisi Vici; Laura Giordano; Arianna Maiorana; Anna Morgan; Rossella Parini; Alessandro Ventura; Paolo Gasparini
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort.
Roberto Cerone; Marcello Giovannini; Vincenzo Leuzzi; Enrica Riva; generoso andria; Alberto Burlina
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.
Flavio Faletra; Paolo Gasparini; Show-Ling Shyng; Kara Snider; Charles A Stanley; Alessandro Ventura; Qing Zhou; Emmanouil Athanasakis; Irene Bruno; Carlo Dionisi Vici; Alberto Burlina
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.

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2013: Flavio Faletra; Federico Fornasier; Francesca Furlan; Emmanouil Athanasakis; Xevi Biarnés; Arianna Boiani; Alberto Burlina; Carlo Dionisi Vici; Laura Giordano; Arianna Maiorana; Anna Morgan; Rossella Parini; Alessandro Ventura; Paolo Gasparini
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort.
Gene 2013;521(1):160-5.
2013: Roberto Cerone; Marcello Giovannini; Vincenzo Leuzzi; Enrica Riva; generoso andria; Alberto Burlina
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.
Advances in therapy 2013;30(3):212-28.
2013: Flavio Faletra; Paolo Gasparini; Show-Ling Shyng; Kara Snider; Charles A Stanley; Alessandro Ventura; Qing Zhou; Emmanouil Athanasakis; Irene Bruno; Carlo Dionisi Vici; Alberto Burlina
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.
Gene 2013;516(1):122-5.
2013: Mara Doimo; Claudio Graziano; Elisabetta Lenzini; Elaine Murphy; Maria Cristina Baldoin; Giuseppe Basso; Alberto Burlina; Maria Andrea Desbats; Geppo Sartori; Marco Seri; Eva Trevisson; Leonardo Salviati
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Human mutation 2013;34(1):229-36.
2013: Annalisa Sechi; Alberto Burlina; Francesca Carubbi; Laura Deroma; Annunziata Lapolla; Daniela Melis; Sabrina Paci; Miriam Rigoldi; Maja Di Rocco
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.
Journal of inherited metabolic disease 2013;36(1):83-9.
2012: Patricia P Jumbo-Lucioni; John Kiel; Nancy Leslie; Nicola Longo; Andrew A M Morris; Maria Luz Couce Pico; Carlett Ramirez-Farias; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Susanne Schweitzer-Krantz; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Sylvia C Estrada; Kathryn Garber; Howard Henderson; Judith L Fridovich-Keil
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
Journal of inherited metabolic disease 2012;35(6):1037-49.
2012: Ivano Di Meo; Costanza Lamperti; Carlo Viscomi; Alberto Auricchio; Alberto Burlina; Massimo Zeviani
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.
EMBO molecular medicine 2012;4(9):1008-14.
2012: Renzo Manara; P Rodriguez-Pombo; M Ugarte; A Bordugo; Alessandro P Burlina; V Citton; M Del Rizzo; Alberto Burlina
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.
Journal of inherited metabolic disease 2012;35(3):413-7.
2012: Mara Doimo; Geppo Sartori; Eva Trevisson; Alberto Burlina; Leonardo Salviati
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.
Journal of inherited metabolic disease 2012;35(3):557-8.
2012: Carla Giordano; Vincenzo Leuzzi; Maurizia Orlandi; Paola Papoff; Alberto Spalice; Valeria Tiranti; Carlo Viscomi; Alberto Burlina; Giulia d'Amati; Ivano Di Meo; Massimo Zeviani
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
Journal of inherited metabolic disease 2012;35(3):451-8.
2012: Valentina Citton; Sandro Dal Pos; Massimo Gallucci; Claudio Baracchini; Alberto Burlina; Alessandro Burlina; Alessia Catalucci; Renzo Manara
Apparent diffusion coefficient restriction in the white matter: going beyond acute brain territorial ischemia.
Insights into imaging 2012;3(2):155-64.
2012: Johannes Häberle; Martina Huemer; Daniela Karall; Martin Lindner; Diego Martinelli; Vicente Rubio; René Santer; Aude Servais; Vassili Valayannopoulos; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Pablo Sanjurjo Crespo; Marjorie Dixon; Carlo Dionisi Vici
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Orphanet journal of rare diseases 2012;7():32.
2011: Nadia Belmatoug; Alberto Burlina; Pilar Giraldo; Chris J Hendriksz; David J Kuter; Eugen Mengel; Gregory M Pastores
Gastrointestinal disturbances and their management in miglustat-treated patients.
Journal of inherited metabolic disease 2011;34(5):991-1001.
2011: Luca Massaccesi; Claudia J Baquero; Alberto Burlina; Alessandro P Burlina; Giancarlo Goi; Guido Tettamanti
Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.
Clinical biochemistry 2011;44(10-11):916-21.
2011: Pierangelo Veggiotti; Alberto Burlina; Giangennaro Coppola; Raffaella Cusmai; Valentina De Giorgis; Renzo Guerrini; Anna Tagliabue; Bernardo Dalla Bernardina
The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus.
Epilepsia 2011;52 Suppl 2():83-9.
2011: Francesco Porta; Alessandro Mussa; Anna Zanin; Nella Augusta Greggio; Alberto Burlina; Marco Spada
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia.
Journal of pediatric gastroenterology and nutrition 2011;52(3):345-50.
2011: Giulia Parolin; Paola Drigo; Irene Toldo; Clementina Boniver; Michela Gatta; Alberto Burlina; Anna Maria Laverda; Stefano Sartori
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness.
Journal of child neurology 2011;26(1):103-8.
2010: L Brun; L H Ngu; W T Keng; G S Ch'ng; Y S Choy; W L Hwu; W T Lee; M A A P Willemsen; M M Verbeek; T Wassenberg; L Régal; Simona Orcesi; D Tonduti; P Accorsi; H Testard; J E Abdenur; S Tay; G F Allen; S Heales; I Kern; M Kato; Alberto Burlina; C Manegold; G F Hoffmann; Nenad Blau
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
Neurology 2010;75(1):64-71.
2010: Ivet Cermàkovà; Andrea Pettenazzo; Salvatore Perrone; Alberto Burlina; Maria Elisabetta Zannin
Grade III lipaemia retinalis in a newborn.
Acta ophthalmologica 2010;88(4):e141-2.
2009: Eva Trevisson; Alberto Burlina; Mara Doimo; Vanessa Pertegato; Alberto Casarin; Luca Cesaro; Plácido Navas; Giuseppe Basso; Geppo Sartori; Leonardo Salviati
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
The Journal of biological chemistry 2009;284(42):28926-34.
2009: Friederike Hörster; Sven F Garbade; T Zwickler; H I Aydin; Olaf Bodamer; Alberto Burlina; A M Das; J B C De Klerk; Carlo Dionisi Vici; S Geb; G Gökcay; N Guffon; Esther M Maier; Eva Morava; J H Walter; B Schwahn; F A Wijburg; Martin Lindner; S Grünewald; Matthias R Baumgartner; Stefan Kölker
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Journal of inherited metabolic disease 2009;32(5):630-9.
2009: Jochen Meyburg; Anibh M Das; Friederike Hoerster; Martin Lindner; Heinz Kriegbaum; Guido Engelmann; Jan Schmidt; Michael Ott; Andrea Pettenazzo; Thomas Luecke; Harald Bertram; Georg F Hoffmann; Alberto Burlina
One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects.
Transplantation 2009;87(5):636-41.
2008: Brian Fowler; Alberto Burlina; Viktor Kozich; C Vianey-Saban
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.
Journal of inherited metabolic disease 2008;31(6):680-9.
2008: Eva Trevisson; Leonardo Salviati; Maria Cristina Baldoin; Alberto Casarin; Giuseppe Basso; Alberto Burlina
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Human genetics 2008;124(3):303.
2008: Eva Trevisson; Leonardo Salviati; Maria Cristina Baldoin; Alberto Casarin; Giuseppe Basso; Alberto Burlina
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Human genetics 2008;124(3):303.
2008: Stefano Sartori; Alberto Burlina; Leonardo Salviati; Eva Trevisson; Irene Toldo; Anna Maria Laverda; Alessandro P Burlina
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(4):348-50.
2008: Marcel R Zurflüh; Johannes Zschocke; Martin Lindner; François Feillet; Céline Chery; Alberto Burlina; Raymond C Stevens; Beat Thöny; Nenad Blau
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Human mutation 2008;29(1):167-75.
2007: Eva Trevisson; Leonardo Salviati; Maria Cristina Baldoin; Irene Toldo; Alberto Casarin; Sabrina Sacconi; Luca Cesaro; Giuseppe Basso; Alberto Burlina
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Human mutation 2007;28(7):694-702.
2007: Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Alberto Burlina; A P Burlina; M Dixon; M Duran; Stephen I Goodman; David M Koeller; E Müller; Eileen Naughten; E Neumaier-Probst; Jürgen G Okun; M Kyllerman; R A Surtees; B Wilcken; Georg F Hoffmann; Peter Burgard
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Journal of inherited metabolic disease 2007;30(1):5-22.
2007: Lucia Valente; Valeria Tiranti; René Massimiliano Marsano; Edoardo Malfatti; Erika Fernandez-Vizarra; Claudia Donnini; Paolo Mereghetti; Luca De Gioia; Alberto Burlina; Claudio Castellan; Giacomo P Comi; Salvatore Savasta; Iliana Ferrero; Massimo Zeviani
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
American journal of human genetics 2007;80(1):44-58.
2006: Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Pediatric research 2006;59(6):840-7.
2006: Gian Paolo Rossi; Giuseppe Maiolino; Teresa M Seccia; Alberto Burlina; Silvia Zavattiero; Maurizio Cesari; Daniele Sticchi; Luigi Pedon; Mario Zanchetta; Achille C Pessina
Hyperhomocysteinemia predicts total and cardiovascular mortality in high-risk women.
Journal of hypertension 2006;24(5):851-9.
2006: Raffaella Zannolli; Sabrina Buoni; Francesca Macucci; Maria M de Santi; Flavia Miracco; Mauro Pierluigi; Massimo Mogni; Paola Piomboni; Maria R Massafra; Paolo Galluzzi; Walter Livi; Aldo Cuccia; Maria Margollicci; Lucia Pucci; Palmino Sacco; Massimo Molinelli; Alberto Burlina; James A Swift; Michele Fimiani; Michele Zappella; Clelia Miracco
Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
Brain & development 2006;28(3):155-61.
2006: Simone Cesaro; Matteo Zignol; Alberto Burlina; Gloria Tridello; Gianluca Visintin; Chiara Messina
Assessment of nephrotoxicity of high-cumulative dose of liposomal amphotericin B in a pediatric patient who underwent allogeneic bone marrow transplantation.
Pediatric transplantation 2006;10(2):255-8.
2006: Alberto Burlina; A Peduto; A Di Palma; A Bellizzi; D Sperlì; A Morrone; Alessandro P Burlina
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.
Journal of inherited metabolic disease 2006;29(1):179-81.
2006: Alessandro P Burlina; Vanni Ferrari; Alberto Burlina; Mario Ermani; Odile Boespflug-Tanguy; Enrico Bertini
N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease.
Advances in experimental medicine and biology 2006;576():353-9; discussion 361-3.
2006: Alessandro P Burlina; B Schmitt; U Engelke; Ron A Wevers; Alberto Burlina; Eugen Boltshauser
Hypoacetylaspartia: clinical and biochemical follow-up of a patient.
Advances in experimental medicine and biology 2006;576():283-7; discussion 361-3.
2005: Maurizio Muraca; Alberto Burlina
Liver and liver cell transplantation for glycogen storage disease type IA.
Acta gastro-enterologica Belgica 2005;68(4):469-72.
2005: Giancarlo Goi; Luca Massaccesi; Alessandro P Burlina; Claudia J Baquero Herrera; Adriana Lombardo; Guido Tettamanti; Alberto Burlina
Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease.
Biochimica et biophysica acta 2005;1741(3):300-6.
2005: Andrea Dardis; Stefania Zampieri; Mirella Filocamo; Alberto Burlina; Bruno Bembi; Maria Gabriela Pittis
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Human mutation 2005;26(2):164.
2005: Daniela Melis; Giancarlo Parenti; Rosanna Gatti; R Della Casa; Rossella Parini; E Riva; Alberto Burlina; C Dionisi Vici; Maja Di Rocco; Francesca Furlan; M Torcoletti; F Papadia; A Donati; V Benigno; Generoso Andria
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
Clinical endocrinology 2005;63(1):19-25.
2005: Marco Zaffanello; Giorgio Zamboni; M Maselli; A Gandini; Marta Camilot; Claudio Maffeis; Alberto Burlina; Luciano Tatò
Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening.
Genetic testing 2005;9(2):133-7.
2005: Maurizio Cesari; Mario Zanchetta; Alberto Burlina; Luigi Pedon; Giuseppe Maiolino; Daniele Sticchi; Achille C Pessina; Gian Paolo Rossi
Hyperhomocysteinemia is inversely related with left ventricular ejection fraction and predicts cardiovascular mortality in high-risk coronary artery disease hypertensives.
Arteriosclerosis, thrombosis, and vascular biology 2005;25(1):115-21.
2004: Alberto Maran; Cristina Crepaldi; Angelo Avogaro; Susanna Catuogno; Alberto Burlina; Alessandro Poscia; Antonio Tiengo
Continuous glucose monitoring in conditions other than diabetes.
Diabetes/metabolism research and reviews 2004;20 Suppl 2():S50-5.
2004: Terttu Suormala; Matthias R Baumgartner; David Coelho; Petra Zavadakova; Viktor Kozich; Hans Georg Koch; Martin Berghaüser; James Wraith; Alberto Burlina; Adrian Sewell; Jürgen Herwig; Brian Fowler
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
The Journal of biological chemistry 2004;279(41):42742-9.
2004: Roberta Ricci; Mario Castorina; Mariangela Di Lillo; Daniela Antuzzi; Andrea Frustaci; Rossella Parini; Francesca Menni; Francesca Furlan; Alberto Burlina; Alessandro Burlina; Susanna Catuogno; Orazio Gabrielli; Ilaria Burattini; Walter Borsini; Susanna Buchner; Sandro Ferriozzi; Claudio Spisni; Raffaele De Vito; Maja Di Rocco; Mario Aricò; Giovanni Pistone; Anna Maria Bongiorno; Amelia Morrone; Catia Cavicchi; Enrico Zammarchi
[Fabry disease in Italy: first epidemiologic and collaborative study].
Annali italiani di medicina interna : organo ufficiale della Società italiana di medicina interna 2004;19(4):269-75.
2004: Valentina Baldas; Tarcisio Not; Alberto Tommasini; Filippo Ansaldi; Sergio Demarini; Daniele Sblattero; Roberto Marzari; Lucio Torelli; Alberto Burlina; Claudio Tiribelli; Alessandro Ventura
Anti-transglutaminase antibodies and age.
Clinical chemistry 2004;50(10):1856-60.
2004: Raffaella Zannolli; Sabrina Buoni; Francesca Macucci; Clelia Miracco; Maria Margherita De Santi; Paola Piomboni; Emanuele Bruni; Alessandro Malandrini; Paolo Galluzzi; Theodora Hadjistilianou; S Medaglini; Maria Antonietta Mazzei; Palmino Sacco; P Terrosi Vagnoli; Luca Volterrani; Massimo Molinelli; Alberto Burlina; James A Swift; Michele Fimiani
Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
American journal of medical genetics. Part A 2004;127A(2):212-6.
2003: Simone Rugolotto; Maria D Prioli; Daniela Toniolo; PierAntonio Pellegrino; Susanna Catuogno; Alberto Burlina
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.
Molecular genetics and metabolism 2003;80(4):408-11.
2003: Raffaella Zannolli; Vanna Micheli; Maria Antonietta Mazzei; Palmino Sacco; Paola Piomboni; Emanuele Bruni; Clelia Miracco; Maria Margherita De Santi; P Terrosi Vagnoli; Luca Volterrani; L Pellegrini; Walter Livi; Barbara Lucani; Stefano Gonnelli; Alberto Burlina; Gabriella Jacomelli; Francesca Macucci; Lucia Pucci; Michele Fimiani; James A Swift; Michele Zappella; Guido Morgese
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.
Journal of medical genetics 2003;40(11):e121.
2003: Vincenzo Zanardo; Gabriella Caroni; Alberto Burlina
Higher homocysteine concentrations in women undergoing caesarean section under general anesthesia.
Thrombosis research 2003;112(1-2):33-6.
2003: Alessandro P Burlina; Renzo Manara; Milena Calderone; Susanna Catuogno; Alberto Burlina
Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.
Journal of inherited metabolic disease 2003;26(5):417-22.
2003: Christina Hellerud; Alberto Burlina; Carlo Gabelli; James R Ellis; Per-Georg Nyholm; Sven Lindstedt
Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2003;41(1):46-55.
2002: Alessandro P Burlina; C Edini; Alberto Burlina
Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria.
Journal of inherited metabolic disease 2002;25(2):135-6.
2002: Carlo Dionisi Vici; Cristiano Rizzo; Alberto Burlina; Ubaldo Caruso; Gaetano Sabetta; Graziella Uziel; Damiano Abeni
Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.
The Journal of pediatrics 2002;140(3):321-7.
2002: Maurizio Muraca; Giorgio E Gerunda; Daniele Neri; Maria Teresa Vilei; Anna Granato; Paolo Feltracco; Muzio Meroni; Gianpiero Giron; Alberto Burlina
Hepatocyte transplantation as a treatment for glycogen storage disease type 1a.
Lancet 2002;359(9303):317-8.
2001: Alessandro P Burlina; Claudio Baracchini; Carla Carollo; Alberto Burlina
Propionic acidaemia with basal ganglia stroke: treatment of acute extrapyramidal symptoms with L-DOPA.
Journal of inherited metabolic disease 2001;24(5):596-8.
2001: Luisa Bonafé; Nenad Blau; Alessandro P Burlina; Anne Romstad; Flemming Güttler; Alberto Burlina
Treatable neurotransmitter deficiency in mild phenylketonuria.
Neurology 2001;57(5):908-11.
2001: Alberto Burlina; H Ogier; Herbert Korall; Friedrich K Trefz
Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.
Molecular genetics and metabolism 2001;72(4):351-5.
2000: Patricia M Jones; Alberto Burlina; Michael J Bennett
Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified.
Journal of inherited metabolic disease 2000;23(7):745-50.
2000: Giancarlo Goi; Chiara Bairati; Alberto Burlina; Luca Massaccesi; C Monciotti; Giovanni Segalini; R Testa; Adriana Lombardo
Plasma glycohydrolase levels in patients with type 1 diabetes at onset and in subjects undergoing an intravenous glucose tolerance test.
Metabolism: clinical and experimental 2000;49(10):1352-5.
2000: Alberto Burlina; Luisa Bonafé; V Ferrari; Agnese Suppiej; Franco Zacchello; Alessandro P Burlina
Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment.
Journal of inherited metabolic disease 2000;23(4):313-6.
2000: Giuseppe Cella; Alberto Burlina; Alessandra Sbarai; G Motta; Antonio Girolami; M Berrettini; W Strauss
Tissue factor pathway inhibitor levels in patients with homocystinuria.
Thrombosis research 2000;98(5):375-81.
2000: Luisa Bonafé; Heinz Troxler; Thomas Kuster; Claus W Heizmann; N A Chamoles; Alberto Burlina; Nenad Blau
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Molecular genetics and metabolism 2000;69(4):302-11.
2000: Patricia M Jones; R Quinn; Paul V Fennessey; Susan Tjoa; Stephen I Goodman; S Fiore; Alberto Burlina; Piero Rinaldo; Richard L Boriack; Michael J Bennett
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
Clinical chemistry 2000;46(2):149-55.
1999: Lodovica Vergani; Maria Barile; Corrado Angelini; Alberto Burlina; L Nijtmans; M P Freda; Carmen Brizio; E Zerbetto; Federica Dabbeni-Sala
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
Brain : a journal of neurology 1999;122 ( Pt 12)():2401-11.
1999: Giancarlo Goi; Chiara Bairati; Giovanni Segalini; Alberto Burlina; Luca Massaccesi; A Lovagnini; Adriana Lombardo
Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients.
Metabolism: clinical and experimental 1999;48(7):817-21.
1999: Alberto Burlina; Luisa Bonafé; Franco Zacchello
Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism.
Seminars in perinatology 1999;23(2):162-73.
1999: L R Otto; Richard L Boriack; D J Marsh; J B Kum; C Eng; Alberto Burlina; Michael J Bennett
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
American journal of medical genetics 1999;83(1):3-5.
1999: Angelo Avogaro; L Calò; Francesco Piarulli; M Miola; S deKreutzenberg; Alberto Maran; Alberto Burlina; R Mingardi; Antonio Tiengo; Stefano Del Prato
Effect of acute ketosis on the endothelial function of type 1 diabetic patients: the role of nitric oxide.
Diabetes 1999;48(2):391-7.
1998: Alberto Burlina; K M Gibson; W Ruitenbeek; L Bonafè; M J Bennett
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.
Journal of inherited metabolic disease 1998;21(8):864-6.
1998: Giancarlo Goi; Chiara Bairati; Luca Massaccesi; Adriana Lombardo; L Bonafè; Vincenzo Zanardo; Alberto Burlina
Lysosomal enzymes in preterm infants with bronchopulmonary dysplasia: a potential diagnostic marker.
Clinica chimica acta; international journal of clinical chemistry 1998;278(1):23-34.
1996: P Drigo; S Piovan; Pier Antonio Battistella; A Della Puppa; Alberto Burlina
Macrocephaly, subarachnoid fluid collection, and glutaric aciduria type I.
Journal of child neurology 1996;11(5):414-7.
1996: Carlo Dionisi Vici; Barbara Garavaglia; Alberto Burlina; Enrico Bertini; I Saponara; Gaetano Sabetta; F Taroni
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
The Journal of pediatrics 1996;129(1):159-62.
1996: Elisa Piva; S De Toni; C Bovo; A Bordugo; Alberto Burlina; Mario Plebani
NADPH oxidase activity and chemotaxis by neutrophils in two patients with glycogen storage disease type Ib treated with recombinant human granulocyte-monocyte colony-stimulating factor.
Haematologica 1996;81(2):148-51.
1996: Michael J Bennett; M J Weinberger; J A Kobori; P Rinaldo; Alberto Burlina
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
Pediatric research 1996;39(1):185-8.
1996: Alberto Burlina; M Dermikol; A Mantau; S Piovan; L Grazian; Franco Zacchello; Y Shin
Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.
Journal of inherited metabolic disease 1996;19(2):209-12.
1996: Ubaldo Caruso; A Adami; Enrico Bertini; Alberto Burlina; F Carnevale; Roberto Cerone; Carlo Dionisi Vici; G Giordano; E Leuzzi; G Parenti; S Savasta; Graziella Uziel; M Zeviani
Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.
Journal of inherited metabolic disease 1996;19(2):143-8.
1995: Alberto Burlina; Carlo Dionisi Vici; S Piovan; I Saponara; A Bartuli; Gaetano Sabetta; Franco Zacchello
Acute pancreatitis in propionic acidaemia.
Journal of inherited metabolic disease 1995;18(2):169-72.
1994: A P Burlina; stephen drake skaper; M R Mazza; V Ferrari; alberta leon; Alberto Burlina
N-acetylaspartylglutamate selectively inhibits neuronal responses to N-methyl-D-aspartic acid in vitro.
Journal of neurochemistry 1994;63(3):1174-7.
1994: Alberto Ponzone; Silvio Ferraris; Marco Spada; Nenad Blau; S Piovan; Alberto Burlina
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.
European journal of pediatrics 1994;153(8):616.
1994: A P Burlina; A Corazza; V Ferrari; P Erhard; B Künnecke; J Seelig; Alberto Burlina
Detection of increased urinary N-acetylaspartylglutamate in Canavan disease.
European journal of pediatrics 1994;153(7):538-9.
1994: Alberto Burlina; Carlo Dionisi Vici; M J Bennett; K M Gibson; S Servidei; Enrico Bertini; Daniel Hale; E Schmidt-Sommerfeld; Gaetano Sabetta; Franco Zacchello
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
The Journal of pediatrics 1994;124(1):79-86.
1994: Michael J Bennett; M J Weinberger; W G Sherwood; Alberto Burlina
Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1994;17(3):283-6.
1994: T Parrella; S Surrey; A Iolascon; M Sartore; R Heidenreich; G Diamond; Alberto Ponzone; O Guardamagna; Alberto Burlina; Roberto Cerone
Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.
Journal of inherited metabolic disease 1994;17(6):652-60.
1993: P Drigo; Alberto Burlina; Pier Antonio Battistella
Subdural hematoma and glutaric aciduria type 1.
Brain & development 1993;15(6):460-1.
1993: Alberto Burlina; O Milanesi; P Biban; A Bordugo; Barbara Garavaglia; Franco Zacchello; S DiMauro
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency.
European journal of pediatrics 1993;152(6):537.
1993: Giancarlo Goi; Alberto Burlina; Chiara Bairati; A Bordugo; V Zanardo; Franco Zacchello; Guido Tettamanti; Adriana Lombardo
Enzymes of lysosomal origin in plasma of twin neonates.
Clinica chimica acta; international journal of clinical chemistry 1993;214(1):61-71.
1993: Giancarlo Goi; Domenico Caputo; Chiara Bairati; Adriana Lombardo; Alberto Burlina; P Ferrante; Carlo Lorenzo Cazzullo; Guido Tettamanti
Enzymes of lysosomal origin in the cerebrospinal fluid and plasma of patients with multiple sclerosis.
European neurology 1993;33(1):1-4.
1993: Michael J Bennett; W G Sherwood; K Michael Gibson; Alberto Burlina
Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.
Journal of inherited metabolic disease 1993;16(3):560-2.
1992: M R Mazziotta; Enzo Ricci; Enrico Bertini; C D Vici; Serenella Servidei; Alberto Burlina; Gaetano Sabetta; A Bartuli; G Manfredi; G Silvestri
Fatal infantile liver failure associated with mitochondrial DNA depletion.
The Journal of pediatrics 1992;121(6):896-901.
1992: Enrico Bertini; Carlo Dionisi Vici; Barbara Garavaglia; Alberto Burlina; Mario Sabatelli; M Rimoldi; A Bartuli; Gaetano Sabetta; S DiDonato
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
European journal of pediatrics 1992;151(2):121-6.
1992: Alberto Burlina; V Ferrari; Carlo Dionisi Vici; A Bordugo; Franco Zacchello; M Tuchman
Allopurinol challenge test in children.
Journal of inherited metabolic disease 1992;15(5):707-12.
1992: Alberto Burlina; C Bachmann; B Wermuth; A Bordugo; V Ferrari; J P Colombo; Franco Zacchello
Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
Journal of inherited metabolic disease 1992;15(3):395-8.
1991: C D Vici; Alberto Burlina; Enrico Bertini; C Bachmann; M R Mazziotta; Franco Zacchello; Gaetano Sabetta; Daniel Hale
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
The Journal of pediatrics 1991;118(5):744-6.
1990: Alberto Burlina; W G Sherwood; Franco Zacchello
Partial biotinidase deficiency associated with Coffin-Siris syndrome.
European journal of pediatrics 1990;149(9):628-9.
1990: Alberto Burlina; M Poletto; Y S Shin; Franco Zacchello
Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.
Journal of inherited metabolic disease 1990;13(3):263-6.
1989: V Colamaria; Alberto Burlina; D Gaburro; F Pajno-Ferrara; J M Saudubray; R G Merino; Bernardo Dalla Bernardina
Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case.
Epilepsia 1989;30(5):573-8.
1989: Giancarlo Goi; A Fabi; Adriana Lombardo; Chiara Bairati; L Bovati; Alberto Burlina; S Agosti; C Serio; Guido Tettamanti
The lysosomal beta-D-N-acetylglucosaminidase isozymes in human plasma during pregnancy: separation and quantification by a simple automated procedure.
Clinica chimica acta; international journal of clinical chemistry 1989;179(3):327-40.
1988: Giancarlo Goi; Alberto Burlina; C Moreschi; G Motta; Chiara Bairati; Adriana Lombardo; A Marini; Guido Tettamanti
Enzymes of lysosomal origin in the serum of infants of diabetic mothers behavior in the first days after birth.
Acta diabetologica latina 1988;25(4):351-60.
1988: Giancarlo Goi; A Fabi; Adriana Lombardo; Alberto Burlina; Guido Tettamanti; N Montalbetti; M Cavalleri; F Halberg
Circadian and circannual rhythms of several enzymes of lysosomal origin in human plasma.
Clinica chimica acta; international journal of clinical chemistry 1988;176(1):1-8.
1988: Alberto Burlina; W G Sherwood; M V Marchioro; B D Bernardina; D Gaburro
Neonatal screening for biotinidase deficiency in north eastern Italy.
European journal of pediatrics 1988;147(3):317-8.
1987: Alberto Burlina; Giancarlo Goi; A Fabi; Adriana Lombardo; D Gaburro; Guido Tettamanti
Behaviour of some lysosomal enzymes in the plasma of insulin dependent diabetic patients during artificial pancreas treatment.
Clinical biochemistry 1987;20(6):423-7.
1987: Giancarlo Goi; Adriana Lombardo; A Fabi; Alberto Burlina; G Segalini; E Guagnellini; Guido Tettamanti
Serum enzymes of lysosomal origin as indicators of the metabolic control in non-insulin-dependent diabetics.
Acta diabetologica latina 1987;24(4):331-40.
1987: Giancarlo Goi; A Fabi; Adriana Lombardo; Alberto Burlina; V Tiby; A Visciani; L Malesani; Guido Tettamanti
Stability of enzymes of lysosomal origin in human cerebrospinal fluid.
Clinica chimica acta; international journal of clinical chemistry 1987;163(2):215-24.
1986: Giancarlo Goi; A Fabi; R Lorenzi; Adriana Lombardo; Guido Tettamanti; Alberto Burlina; L Pinelli; D Gaburro
Serum enzymes of lysosomal origin as indicators of the metabolic control in diabetes: comparison with glycated hemoglobin and albumin.
Acta diabetologica latina 1986;23(2):117-25.
1984: Adriana Lombardo; Giancarlo Goi; E Guagnellini; A Fabi; G Sciorelli; Alberto Burlina; Guido Tettamanti
Behaviour of several enzymes of lysosomal origin in human plasma during whole blood storage.
Clinica chimica acta; international journal of clinical chemistry 1984;143(3):343-53.
1984: Adriana Lombardo; Giancarlo Goi; E Pistolesi; E Rocca; S Agosti; A Fabi; A Giuliani; Alberto Burlina; Guido Tettamanti
Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy.
Clinica chimica acta; international journal of clinical chemistry 1984;143(3):253-64.