Roberta Taurisano

Roberta Taurisano

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Roberta Taurisano

Roberta Taurisano

Publications by authors named "Roberta Taurisano"

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15Publications

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The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.

Clin Chim Acta 2018 Nov 25;486:387-394. Epub 2018 Aug 25.

Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2018.08.039DOI Listing
November 2018

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.

J Pediatr 2018 11 5;202:272-278.e4. Epub 2018 Sep 5.

Division of Metabolic Diseases, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.06.050DOI Listing
November 2018

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

BMC Med Genet 2018 10 11;19(1):183. Epub 2018 Oct 11.

Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0694-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180571PMC
October 2018

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy.

Neurology 2018 09 17;91(12):565-567. Epub 2018 Aug 17.

From Bambino Gesù Children's Hospital (D.D., G.O., S.P., D. Maiorani, D. Martinelli, F.D., R.T., M.D., C.D.-V.), IRCCS; and Catholic University (G.O.), Fondazione Policlinico Agostino Gemelli, Rome, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006209DOI Listing
September 2018

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

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

J Lipid Res 2016 Mar 5;57(3):361-7. Epub 2016 Jan 5.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS (Institute for Treatment and Research), Rome, Italy.

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http://dx.doi.org/10.1194/jlr.M061978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766985PMC
March 2016

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

Eur J Pediatr 2014 Oct 21;173(10):1391-4. Epub 2014 May 21.

Division of Metabolism, Department of Pediatric Medicine, Bambino Gesu' Children's Hospital, IRCCS, Piazza S. Onofrio 4, Rome, 00165, Italy.

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http://link.springer.com/10.1007/s00431-014-2338-y
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http://dx.doi.org/10.1007/s00431-014-2338-yDOI Listing
October 2014

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

Pediatr Diabetes 2013 Aug 4;14(5):384-7. Epub 2013 Jan 4.

Department of Pediatrics, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.1111/j.1399-5448.2012.00921.xDOI Listing
August 2013