Publications by authors named "Giulia Polo"

19Publications

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.

Int J Neonatal Screen 2020 Nov 13;6(4). Epub 2020 Nov 13.

Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil.

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http://dx.doi.org/10.3390/ijns6040090DOI Listing
November 2020

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

Int J Neonatal Screen 2020 Nov 2;6(4). Epub 2020 Nov 2.

Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2/B, 35129 Padua, Italy.

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http://dx.doi.org/10.3390/ijns6040085DOI Listing
November 2020

The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.

Clin Chem Lab Med 2020 Nov;58(12):2063-2072

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/10.1515/cclm-2020-0064DOI Listing
November 2020

Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study.

Nutrients 2019 Oct 21;11(10). Epub 2019 Oct 21.

Division of Inherited Metabolic Diseases, Department of Woman's and Child's Health, University Hospital, 35128 Padova, Italy.

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http://dx.doi.org/10.3390/nu11102541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835503PMC
October 2019

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

Int J Neonatal Screen 2019 Jun 21;5(2):24. Epub 2019 Jun 21.

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

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http://dx.doi.org/10.3390/ijns5020024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510225PMC
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 Nov;57(12):1863-1874

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
November 2019

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

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

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

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

Pivotal role of plasmacytoid dendritic cells in inflammation and NK-cell responses after TLR9 triggering in mice.

Blood 2012 Jul 18;120(1):90-9. Epub 2012 May 18.

Institut Pasteur, Unité de Régulation Immunitaire et Vaccinologie, Département d'Immunologie, Paris, France.

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http://dx.doi.org/10.1182/blood-2012-02-410936DOI Listing
July 2012

High-throughput LC-MS/MS method for monitoring sirolimus and everolimus in the routine clinical laboratory.

Clin Chem Lab Med 2011 Jul 17;49(7):1151-8. Epub 2011 May 17.

Department of Laboratory Medicine, University-Hospital, Padova, Italy.

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http://dx.doi.org/10.1515/CCLM.2011.192DOI Listing
July 2011