Alberto B Burlina

Alberto B Burlina

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Alberto B Burlina

Alberto B Burlina

Publications by authors named "Alberto B Burlina"

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38Publications

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Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Clin Chem Lab Med 2019 May 15. Epub 2019 May 15.

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy.

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http://dx.doi.org/10.1515/cclm-2018-1301DOI Listing
May 2019

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

J Inherit Metab Dis 2018 03 15;41(2):209-219. Epub 2017 Nov 15.

Neurological Unit, St. Bassiano Hospital, Via dei Lotti, 40, 36061, Bassano del Grappa, Italy.

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http://dx.doi.org/10.1007/s10545-017-0098-3DOI Listing
March 2018

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.

Eur J Pediatr 2016 Aug 5;175(8):1123-8. Epub 2016 Feb 5.

Division of Metabolic Diseases, Department of Woman and Child Health, University Hospital of Padua, Padua, Italy.

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http://dx.doi.org/10.1007/s00431-016-2699-5DOI Listing
August 2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Survey of Italian pediatricians' perspectives and knowledge about neonatal screening.

Ital J Pediatr 2015 May 29;41:41. Epub 2015 May 29.

Pediatrics and Neonatal Intensive Care Units, University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1186/s13052-015-0147-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462014PMC
May 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

BMC Public Health 2014 Dec 4;14:1243. Epub 2014 Dec 4.

Division of Inborn Metabolic Diseases, Department of Pediatrics, Padua University Hospital, Padua, Italy.

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http://dx.doi.org/10.1186/1471-2458-14-1243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265392PMC
December 2014

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

J Inherit Metab Dis 2014 Sep 9;37(5):763-73. Epub 2014 May 9.

SFG: Faculty of Applied Psychology, SRH University of Applied Sciences, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-014-9676-9DOI Listing
September 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.

Mol Genet Metab 2013 Apr 27;108(4):263-6. Epub 2013 Jan 27.

Division of Metabolic Diseases, Department of Woman and Child Health, University Hospital of Padua, Via Giustiniani 3 35128 Padua, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.011DOI Listing
April 2013

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases.

Mol Genet Metab 2012 May 16;106(1):25-30. Epub 2012 Feb 16.

Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Consultant in Neurometabolic Hereditary Diseases at the University Hospital of Padua, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.02.008DOI Listing
May 2012

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.

J Inherit Metab Dis 2010 Dec 10;33 Suppl 3:S389-93. Epub 2010 Sep 10.

Division of Metabolic Diseases, Department of Paediatrics, University Hospital Padua, Via Giustiniani 3, 35128 Padua, Italy.

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http://link.springer.com/10.1007/s10545-010-9195-2
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http://dx.doi.org/10.1007/s10545-010-9195-2DOI Listing
December 2010

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Nat Med 2010 Aug 25;16(8):869-71. Epub 2010 Jul 25.

The Foundation Carlo Besta Institute of Neurology, Milan, Italy.

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http://dx.doi.org/10.1038/nm.2188DOI Listing
August 2010

Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria.

Neuroradiology 2009 Dec 4;51(12):803-12. Epub 2009 Aug 4.

Neuroradiologic Unit, University Hospital of Padua, Padua, Italy.

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http://dx.doi.org/10.1007/s00234-009-0574-zDOI Listing
December 2009

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.

Eur J Paediatr Neurol 2008 Jul 18;12(4):348-50. Epub 2007 Sep 18.

Department of Pediatrics, University of Padua, Via Giustiniani, 3, 35128 Padova, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2007.07.011DOI Listing
July 2008

Hypoacetylaspartia: clinical and biochemical follow-up of a patient.

Adv Exp Med Biol 2006 ;576:283-7; discussion 361-3

Department of Neuroscience, Neurological Clinic, University Hospital, Via Giustiniani 5, 1-35128, Padova, Italy.

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http://dx.doi.org/10.1007/0-387-30172-0_20DOI Listing
August 2006

N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease.

Adv Exp Med Biol 2006 ;576:353-9; discussion 361-3

Department of Neuroscience, Neurological Clinic, University Hospital, Via Giustiniani 5, I-35128, Padova, Italy.

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http://dx.doi.org/10.1007/0-387-30172-0_26DOI Listing
August 2006

Assessment of nephrotoxicity of high-cumulative dose of liposomal amphotericin B in a pediatric patient who underwent allogeneic bone marrow transplantation.

Pediatr Transplant 2006 Mar;10(2):255-8

Department of Pediatrics, Clinic of Pediatric Hematology Oncology, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1111/j.1399-3046.2005.00434.xDOI Listing
March 2006

Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease.

Biochim Biophys Acta 2005 Sep;1741(3):300-6

Department of Medical Chemistry, Biochemistry and Biotechnology, University of Milan, Via Saldini, 50, 20133 Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2005.05.002DOI Listing
September 2005

Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.

Mol Genet Metab 2003 Dec;80(4):408-11

Pediatrics Section, Mother and Child Department, University of Verona, Verona, Italy.

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December 2003

Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.

J Pediatr 2002 Mar;140(3):321-7

Department of Metabolism, Bambino Gesù Children's Hospital-Scientific Institute (IRCCS), Rome, Italy.

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http://dx.doi.org/10.1067/mpd.2002.122394DOI Listing
March 2002