Alberto Burlina

Alberto Burlina

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Alberto Burlina

Alberto Burlina

Publications by authors named "Alberto Burlina"

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Maternal germline mosaicism in Fabry disease.

Neurol Sci 2019 Jun 14;40(6):1279-1281. Epub 2019 Feb 14.

Division of Neurology, Madonna del Soccorso Hospital, AV5, San Benedetto del Tronto, Italy.

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http://dx.doi.org/10.1007/s10072-019-03754-1DOI Listing
June 2019

Correction to: Newborn screening in mucopolysaccharidoses.

Ital J Pediatr 2019 06 11;45(1):71. Epub 2019 Jun 11.

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy.

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http://dx.doi.org/10.1186/s13052-019-0665-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560754PMC
June 2019

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

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

Parkinsonism Relat Disord 2019 Apr 11;61:207-210. Epub 2018 Oct 11.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183044
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http://dx.doi.org/10.1016/j.parkreldis.2018.10.012DOI Listing
April 2019

Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus.

Cogn Neuropsychol 2018 May - Jun;35(3-4):200-208. Epub 2017 Nov 9.

c Division of Inherited Metabolic Diseases , University Hospital Padua.

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http://dx.doi.org/10.1080/02643294.2017.1396207DOI Listing
March 2019

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

J Inherit Metab Dis 2019 Mar;42(2):209-219

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12065
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http://dx.doi.org/10.1002/jimd.12065DOI Listing
March 2019

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Eur J Paediatr Neurol 2018 Nov 3;22(6):1042-1053. Epub 2018 Jul 3.

Department of Neurosciences, University Hospital of Padua, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.06.010DOI Listing
November 2018

Newborn screening in mucopolysaccharidoses.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. Epub 2018 Nov 16.

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy.

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http://dx.doi.org/10.1186/s13052-018-0552-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238254PMC
November 2018

Living with phenylketonuria in adulthood: The PKU ATTITUDE study.

Mol Genet Metab Rep 2018 Sep 11;16:39-45. Epub 2018 Jul 11.

Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Woman's and Child's Health - University Hospital, Padova, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2018.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066799PMC
September 2018

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

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Metab Brain Dis 2018 02 25;33(1):261-269. Epub 2017 Nov 25.

General Pediatrics and Pediatric Acute and Emergency Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1007/s11011-017-0150-xDOI Listing
February 2018

Food triggers and inherited metabolic disorders: a challenge to the pediatrician.

Ital J Pediatr 2018 Jan 25;44(1):18. Epub 2018 Jan 25.

Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, University Hospital, Padova, Italy.

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http://dx.doi.org/10.1186/s13052-018-0456-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784653PMC
January 2018

Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

Mol Genet Metab Rep 2016 Sep 13;8:34-40. Epub 2016 Jul 13.

Division of Inherited Metabolic Diseases, University Hospital of Padova, Padova, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949587PMC
September 2016

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

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Mol Genet Metab 2016 08 7;118(4):244-54. Epub 2016 Jun 7.

Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.004DOI 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

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0290-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474341PMC
June 2015

Short-term survival of hyperammonemic neonates treated with dialysis.

Pediatr Nephrol 2015 May 4;30(5):839-47. Epub 2014 Sep 4.

Nephrology and Dialysis Unit, Department of Nephrology-Urology, "Bambino Gesù" Children's Hospital-IRCCS, Rome, Italy,

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http://dx.doi.org/10.1007/s00467-014-2945-xDOI Listing
May 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

Management of adult patients with phenylketonuria: survey results from 24 countries.

Eur J Pediatr 2015 Jan 6;174(1):119-27. Epub 2014 Dec 6.

Kreiskliniken Reutlingen GmbH, School of Medicine, Outpatient Medical Centre, University of Tuebingen, Gammertingen, Germany,

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http://dx.doi.org/10.1007/s00431-014-2458-4DOI Listing
January 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

Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.

JIMD Rep 2014 21;14:47-53. Epub 2013 Dec 21.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy,

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http://dx.doi.org/10.1007/8904_2013_283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213326PMC
October 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

The role of automated analyzers in detecting abnormal granulation of leucocytes in lysosomal storage diseases: Maroteaux-Lamy disease.

Am J Hematol 2013 Jun 22;88(6):527. Epub 2013 Jan 22.

Department of Laboratory Medicine, Padua University School of Medicine, Padua, Italy.

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http://dx.doi.org/10.1002/ajh.23377DOI Listing
June 2013

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

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.

Adv Ther 2013 Mar 20;30(3):212-28. Epub 2013 Feb 20.

Reference Center for Neonatal Screening and Diagnosis for Metabolic Diseases of University-Istituto Giannina Gaslini, Via 5 maggio, 3916147 Genoa, Italy.

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http://link.springer.com/10.1007/s12325-013-0011-x
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http://dx.doi.org/10.1007/s12325-013-0011-xDOI Listing
March 2013

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Hum Mutat 2013 Jan 17;34(1):229-36. Epub 2012 Oct 17.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/humu.22233DOI Listing
January 2013

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.

EMBO Mol Med 2012 Sep 20;4(9):1008-14. Epub 2012 Aug 20.

Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Milan, Italy.

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http://dx.doi.org/10.1002/emmm.201201433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491831PMC
September 2012

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

J Inherit Metab Dis 2012 May 22;35(3):451-8. Epub 2011 Oct 22.

Department of Radiological, Oncological and Pathological Sciences, Sapienza University, Policlinico Umberto I, Viale Regina Elena 324, 00161 Rome, Italy.

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http://link.springer.com/10.1007/s10545-011-9408-3
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http://dx.doi.org/10.1007/s10545-011-9408-3DOI Listing
May 2012

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

Up to date knowledge on different treatment strategies for phenylketonuria.

Mol Genet Metab 2011 16;104 Suppl:S19-25. Epub 2011 Aug 16.

Division of Metabolic Diseases, Pediatrics Department, Ramon y Cajal Hospital, Madrid, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192110026
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http://dx.doi.org/10.1016/j.ymgme.2011.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437510PMC
March 2012

Gastrointestinal disturbances and their management in miglustat-treated patients.

J Inherit Metab Dis 2011 Oct 21;34(5):991-1001. Epub 2011 Jul 21.

Reference Centre for Lysosomal Diseases, Beaujon Hospital, Clichy, France.

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http://dx.doi.org/10.1007/s10545-011-9368-7DOI Listing
October 2011

Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.

Clin Biochem 2011 Jul 16;44(10-11):916-21. Epub 2011 Apr 16.

Department of Chemistry, Biochemistry and Biotechnologies for Medical Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2011.03.141DOI Listing
July 2011

The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus.

Epilepsia 2011 Apr;52 Suppl 2:83-9

Department of Child Neurology and Psychiatry, Fondazione IRCCS Istituto Neurologico C Mondino, Pavia, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03010.xDOI Listing
April 2011

Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia.

J Pediatr Gastroenterol Nutr 2011 Mar;52(3):345-50

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1097/MPG.0b013e3182093b32DOI Listing
March 2011

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

Grade III lipaemia retinalis in a newborn.

Acta Ophthalmol 2010 Jun 26;88(4):e141-2. Epub 2009 Jun 26.

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http://dx.doi.org/10.1111/j.1755-3768.2009.01581.xDOI Listing
June 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

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet 2008 Oct;124(3):303

Genetica Clinica-Dipartimento di Pediatria-Università di Padova, Padova, Giustiniani, 3, 35128 Padova, Italy.

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October 2008

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet 2008 Oct;124(3):303

Genetica Clinica-Dipartimento di Pediatria-Università di Padova, Padova, Giustiniani, 3, 35128 Padova, Italy.

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October 2008

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

The pulvinar sign: frequency and clinical correlations in Fabry disease.

J Neurol 2008 May 26;255(5):738-44. Epub 2008 Feb 26.

Dept. of Neuroscience, Neurological Clinic, University Hospital of Padova, Italy.

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http://dx.doi.org/10.1007/s00415-008-0786-xDOI Listing
May 2008

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Hum Mutat 2008 Jan;29(1):167-75

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1002/humu.20637DOI Listing
January 2008