Maurizio Scarpa

Maurizio Scarpa

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Maurizio Scarpa

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Response to: The tRNA(Ile) variant m.4309G>A may not cause Kearns Sayre syndrome.

Transplantation 2019 Sep 9. Epub 2019 Sep 9.

Cadiothoracic Department, University Hospital of Udine, Italy.

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http://dx.doi.org/10.1097/TP.0000000000002953DOI Listing
September 2019

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Eur J Pediatr 2019 May 26;178(5):739-753. Epub 2019 Feb 26.

Laboratorio di Diagnosi e Terapia delle Malattie Lisosomiali, Department of Women's and Children's Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1007/s00431-019-03341-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459791PMC
May 2019

Research activity and capability in the European reference network MetabERN.

Orphanet J Rare Dis 2019 05 29;14(1):119. Epub 2019 May 29.

Maurizio Scarpa, MetabERN, Udine, Italy.

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http://dx.doi.org/10.1186/s13023-019-1091-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542047PMC
May 2019

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Acta Paediatr 2018 12 23;107(12):2059-2065. Epub 2018 Oct 23.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1111/apa.14587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980PMC
December 2018

Possible strategies to cross the blood-brain barrier.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):131. Epub 2018 Nov 16.

Brains For Brain Foundation, Padova, Italy.

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0563-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238258PMC
November 2018

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.

Pediatr Clin North Am 2018 04;65(2):353-373

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.011DOI Listing
April 2018

Treatment of brain disease in the mucopolysaccharidoses.

Mol Genet Metab 2017 12 16;122S:25-34. Epub 2017 Oct 16.

Department of Genetics, UFRGS & Medical Genetics Service, HCPA, INAGEMP, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.ymgme.2017.10.007DOI Listing
December 2017

Epilepsy in mucopolysaccharidosis disorders.

Mol Genet Metab 2017 12 16;122S:55-61. Epub 2017 Oct 16.

Department of Child Neurology, Hospital Universitario Austral, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.ymgme.2017.10.006DOI Listing
December 2017

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Metab Brain Dis 2017 10 3;32(5):1529-1536. Epub 2017 Jun 3.

Department of Pediatrics, University Children's Hospital, Padua, Italy.

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http://dx.doi.org/10.1007/s11011-017-0044-yDOI Listing
October 2017

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab Rep 2017 Jun 3;11:62-64. Epub 2017 May 3.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Department of Genetics/UFRGS and INAGEMP, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgmr.2017.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426030PMC
June 2017

Open issues in Mucopolysaccharidosis type I-Hurler.

Orphanet J Rare Dis 2017 06 15;12(1):112. Epub 2017 Jun 15.

Department for the Woman and Child Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1186/s13023-017-0662-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472858PMC
June 2017

[European Reference Networks : Consequences for healthcare in Germany].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2017 May;60(5):537-541

Frankfurter Referenzzentrum für Seltene Erkrankungen, Universitätsklinikum Frankfurt, Frankfurt am Main, Deutschland.

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http://link.springer.com/10.1007/s00103-017-2533-x
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http://dx.doi.org/10.1007/s00103-017-2533-xDOI Listing
May 2017

[Lysosomal Storage Diseases: Challenges in Multiprofessional Patient Care with Enzyme Replacement Therapy].

Klin Padiatr 2017 May 2;229(3):168-174. Epub 2017 May 2.

Paediatrics, HELIOS Dr Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.

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http://dx.doi.org/10.1055/s-0043-103088DOI Listing
May 2017

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model.

Int J Mol Sci 2017 May 17;18(5). Epub 2017 May 17.

Women's and Children's Health Department, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.

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http://dx.doi.org/10.3390/ijms18051072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454982PMC
May 2017

The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses.

Case Rep Pediatr 2017 3;2017:7257230. Epub 2017 Apr 3.

Pediatric Pain and Palliative Care Service, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.

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http://dx.doi.org/10.1155/2017/7257230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394408PMC
April 2017

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.

Cell Death Dis 2016 08 11;7(8):e2331. Epub 2016 Aug 11.

Department of Biotechnology and Biosciences, University Milan Bicocca, Piazza della Scienza 2, Milano 20126, Italy.

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http://dx.doi.org/10.1038/cddis.2016.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108318PMC
August 2016

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.

Genet Med 2016 Feb 18;18(2):145-51. Epub 2015 Jun 18.

Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

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http://dx.doi.org/10.1038/gim.2015.68DOI Listing
February 2016

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

N Engl J Med 2015 Sep;373(11):1010-20

From the Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children's Hospital, Chicago (B.K.B.); Icahn School of Medicine, Mount Sinai, New York (M.B.), and Women and Children's Hospital of Buffalo, Buffalo (R.E.) - both in New York; Centre Hospitalier Universitaire Brabois-Hôpital d'Enfants, Vandoeuvre-lès-Nancy (F.F.), and University Hospital Necker-Enfants Malades and Imagine Institute, Paris (V.V.) - both in France; University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia (I.B.); Cincinnati Children's Hospital Medical Center, Cincinnati (T.A.B.); Hospital Universitario La Paz, Madrid (C.C.G.); Ege University Medical Faculty, Izmir (M.C.), and Gazi University Medical Faculty, Ankara (F.E.) - both in Turkey; Hospital Infantil de México Federico Gómez, Mexico City (A.C.-S.); Cambridge University Hospitals, Cambridge, United Kingdom (P.D.); Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa (M.D.R.), and University of Padua, Padua (M.S.) - both in Italy; Stanford University, Palo Alto (G.M.E.), and University of California, San Francisco, San Francisco ( J.K.) - both in California; Children's Hospital of Philadelphia, Philadelphia (C.F.); Alfred I. duPont Hospital for Children, Wilmington, DE (K.N.F.); University of Arizona Cancer Center, Tucson (C.L.); Villa Metabolica, Center of Pediatric and Adolescent Medicine, University of Mainz, Mainz (E.M.), and University Hospital Freiburg, Freiburg (K.O.S.) - both in Germany; Boston Children's Hospital, Boston (E.G.N.), and Synageva BioPharma, Lexington (Y.Y., S.E., S.R.-C., A.G.Q.) - both in Massachusetts; John Hunter Children's Hospital, and Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, NSW (S.N.), Royal Children's Hospital, Parkville, VIC (H.P.), and Royal Brisbane and Women's Hospital, Brisbane, QLD (M.W.) - all in Australia; Faculty Hospital, Palacky University, Olomouc, Czech Republic

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http://dx.doi.org/10.1056/NEJMoa1501365DOI Listing
September 2015

The biological clock and the molecular basis of lysosomal storage diseases.

JIMD Rep 2015 13;18:93-105. Epub 2015 Jan 13.

Division of Internal Medicine and Chronobiology Unit, Department of Medical Sciences, IRCCS Scientific Institute and Regional General Hospital "Casa Sollievo della Sofferenza", S.Giovanni Rotondo, (FG), Italy,

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http://dx.doi.org/10.1007/8904_2014_354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361918PMC
March 2015

Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system.

Best Pract Res Clin Endocrinol Metab 2015 Mar 5;29(2):159-71. Epub 2015 Jan 5.

Brains for Brains Foundation, Department of Women and Children Health, Via Giustiniani 3, Padova, Italy; Kings College London, Institute of Pharmaceutical Science, Franklin-Wilkins Building, Stamford Street, London SE1 9NH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2014.12.001DOI Listing
March 2015

Intrathecal delivery of protein therapeutics to the brain: a critical reassessment.

Pharmacol Ther 2014 Nov 20;144(2):114-22. Epub 2014 May 20.

Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, Torrance, CA, USA.

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http://dx.doi.org/10.1016/j.pharmthera.2014.05.009DOI Listing
November 2014

A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.

JIMD Rep 2014 25;17:13-21. Epub 2014 Jul 25.

Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.

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http://link.springer.com/10.1007/8904_2014_317
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http://dx.doi.org/10.1007/8904_2014_317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241202PMC
November 2014

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

JIMD Rep 2014 16;14:1-9. Epub 2013 Nov 16.

Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1007/8904_2013_276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213335PMC
October 2014

Nocturnal frontal lobe epilepsy in mucopolysaccharidosis.

Brain Dev 2014 Oct 18;36(9):826-9. Epub 2014 Jan 18.

"Claudio Munari" Epilepsy Surgery Centre, Niguarda Ca'Granda Hospital, Milan, Italy.

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http://dx.doi.org/10.1016/j.braindev.2013.12.002DOI Listing
October 2014

A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.

Biomed Chromatogr 2014 Aug 22;28(8):1131-9. Epub 2014 Jan 22.

Mass Spectrometry Laboratory, Department of Women's and Children's Health, University of Padova, Italy.

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http://dx.doi.org/10.1002/bmc.3133DOI Listing
August 2014

Chiari 1 malformation and holocord syringomyelia in hunter syndrome.

JIMD Rep 2014 2;12:31-5. Epub 2013 Jul 2.

Neuroradiology, University of Salerno, via S. Allende 1, 84081, Baronissi (SA), Italy,

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http://dx.doi.org/10.1007/8904_2013_241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897861PMC
January 2014

Human amniotic fluid stem cells protect rat lungs exposed to moderate hyperoxia.

Pediatr Pulmonol 2013 Nov 26;48(11):1070-80. Epub 2013 Mar 26.

Neonatal Intensive Care Unit, Women's and Children's Health Department, University Padova Hospital, Padova, Italy; Gene Therapy Laboratory, Women's and Children's Health Department, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/ppul.22791DOI Listing
November 2013

The role of visual electrophysiology in mucopolysaccharidoses.

J Child Neurol 2013 Oct 21;28(10):1203-9. Epub 2012 Aug 21.

1Child Neurology and Clinical Neurophysiology, University Children's Hospithal, Padova, Italy.

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http://jcn.sagepub.com/content/28/10/1203.full.pdf
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http://jcn.sagepub.com/cgi/doi/10.1177/0883073812453322
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http://dx.doi.org/10.1177/0883073812453322DOI Listing
October 2013

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.

BMC Med Genomics 2013 Oct 2;6:37. Epub 2013 Oct 2.

Department of Medical Sciences, Division of Internal Medicine and Chronobiology Unit, IRCCS Scientific Institute and Regional General Hospital "Casa Sollievo della Sofferenza", S,Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1186/1755-8794-6-37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851237PMC
October 2013

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome).

JIMD Rep 2013 12;11:65-72. Epub 2013 Apr 12.

Department of Paediatric and Adolescent Medicine, Villa Metabolica, University Medical Centre of the Johannes Gutenberg-University Mainz, Langenbeckstr. 2, 55131, Mainz, Germany.

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http://dx.doi.org/10.1007/8904_2013_223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755552PMC
August 2013

Mucopolysaccharidoses and other lysosomal storage diseases.

Rheum Dis Clin North Am 2013 May;39(2):431-55

Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg, University of Mainz, Langenbeckstrasse 2, Mainz 55131, Germany.

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http://dx.doi.org/10.1016/j.rdc.2013.03.004DOI Listing
May 2013

The blood-brain barrier friend or foe?

J Inherit Metab Dis 2013 May;36(3):435-6

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http://dx.doi.org/10.1007/s10545-013-9609-zDOI Listing
May 2013

Respiratory and sleep disorders in mucopolysaccharidosis.

J Inherit Metab Dis 2013 Mar 15;36(2):201-10. Epub 2012 Nov 15.

Department Medicine, Physiology and Neuroscience, André Cournand Pulmonary Physiology Laboratory, Bellevue Hospital, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1007/s10545-012-9555-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590419PMC
March 2013

Evaluation of disease severity in mucopolysaccharidoses.

J Pediatr Rehabil Med 2010 ;3(1):39-46

Children's Hospital, University of Mainz, Mainz, Germany.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/PRM-2010-0100DOI Listing
October 2012

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series.

J Pediatr Rehabil Med 2010 ;3(1):71-5

Department of Pediatrics, University of Padova, Padova, Italy.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/PRM-2010-0104DOI Listing
October 2012

Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide.

Dev Med Child Neurol 2012 Oct 14;54(10):961-4. Epub 2012 Mar 14.

Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea, Conegliano (TV), Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04228.xDOI Listing
October 2012

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases.

Acta Paediatr 2012 Jul 11;101(7):692-701. Epub 2012 Apr 11.

Gene Therapy Laboratory, Department of Pediatrics, University of Padova, Italy.

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http://doi.wiley.com/10.1111/j.1651-2227.2012.02674.x
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http://dx.doi.org/10.1111/j.1651-2227.2012.02674.xDOI Listing
July 2012

Advanced healthcare for children and youth: application of targeted prevention, predictive diagnostics and personalised treatment approaches.

Authors:
Maurizio Scarpa

EPMA J 2011 Jun 6;2(2):137-9. Epub 2011 Jul 6.

Department of Paediatrics, University of Padova, Padova, Italy ; Center for Rare Diseases Casa Sollievo della Sofferenza, Scientific Institute and Hospital, San Giovanni Rotondo, Foggia Italy.

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http://link.springer.com/10.1007/s13167-011-0092-z
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http://dx.doi.org/10.1007/s13167-011-0092-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405389PMC
June 2011

Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases.

EPMA J 2011 Jun 1;2(2):231-9. Epub 2011 May 1.

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

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http://dx.doi.org/10.1007/s13167-011-0081-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405387PMC
June 2011

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.

Br J Ophthalmol 2011 May 18;95(5):613-9. Epub 2010 Sep 18.

The Veneto Eye Bank Foundation, Venice, Italy.

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http://dx.doi.org/10.1136/bjo.2010.179937DOI Listing
May 2011

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.

Clin Chim Acta 2011 Jan 9;412(3-4):343-6. Epub 2010 Nov 9.

Department of Pediatrics, University Children's Hospital, University of Padua, Italy.

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http://dx.doi.org/10.1016/j.cca.2010.11.006DOI Listing
January 2011

Pathophysiology of neuropathic lysosomal storage disorders.

J Inherit Metab Dis 2010 Aug 29;33(4):347-62. Epub 2010 Apr 29.

Department of Paediatrics, Centre for Rare Diseases, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

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http://dx.doi.org/10.1007/s10545-010-9075-9DOI Listing
August 2010

A novel functional role of iduronate-2-sulfatase in zebrafish early development.

Matrix Biol 2010 Jan 15;29(1):43-50. Epub 2009 Sep 15.

Department of Biology, University of Padova, Padova, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X090013
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http://dx.doi.org/10.1016/j.matbio.2009.09.001DOI Listing
January 2010

A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

J Cyst Fibros 2010 Jan 7;9(1):29-35. Epub 2009 Nov 7.

Department of Paediatrics, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1016/j.jcf.2009.10.003DOI Listing
January 2010

Mucopolysaccharidosis VI: the Italian experience.

Eur J Pediatr 2009 Oct 7;168(10):1203-6. Epub 2009 Jan 7.

University of Padova, Padua, Italy.

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http://dx.doi.org/10.1007/s00431-008-0910-zDOI Listing
October 2009

High transduction efficiency of human amniotic fluid stem cells mediated by adenovirus vectors.

Stem Cells Dev 2008 Oct;17(5):953-62

Gene Therapy Laboratory and Centre for Rare Diseases, Department of Pediatrics, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1089/scd.2007.0188DOI Listing
October 2008

Lysosomal storage diseases and the blood-brain barrier.

Curr Pharm Des 2008 ;14(16):1566-80

Kings College London, Blood-Brain Barrier Group, Pharmaceutical Sciences Division, Hodgkin Building, Guys Campus London, SE1 1UL, UK.

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http://dx.doi.org/10.2174/138161208784705504DOI Listing
October 2008

Seventh International Symposium on Lysosomal Storage Diseases.

Acta Paediatr 2008 Apr;97(457):1-2

Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1651-2227.2008.00647.xDOI Listing
April 2008

Lysosomal storage diseases: new challenges.

Acta Paediatr 2008 Apr;97(457):5-6

Department of Pediatrics, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1111/j.1651-2227.2008.00645.xDOI Listing
April 2008

TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis.

Am J Med Genet A 2007 Aug;143A(16):1936-7

Department of Pediatrics, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31849DOI Listing
August 2007

Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.

J Gene Med 2005 Nov;7(11):1482-91

Gene Therapy Laboratory, Centre for Rare Diseases and Department of Pediatrics, University of Padova, Italy.

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http://dx.doi.org/10.1002/jgm.790DOI Listing
November 2005

Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.

Mol Hum Reprod 2005 Aug 26;11(8):607-14. Epub 2005 Aug 26.

Department of Paediatrics, Università degli Studi di Padova, via Giustiniani, Padova, Italy.

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http://dx.doi.org/10.1093/molehr/gah214DOI Listing
August 2005

Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.

Am J Med Genet A 2005 Jun;135(2):142-4

Cystic Fibrosis Centre, Azienda Ospedaliera di Verona, Verona, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30470DOI Listing
June 2005