Publications by authors named "Rita Barone"

79Publications

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.

Int J Neonatal Screen 2018 Jun 5;4(2):12. Epub 2018 Apr 5.

Referral Center for Inherited Metabolic Diseases, Pediatric Clinical, AOU Policlinico-VE, Via Santa Sofia 78, 95123 Catania, Italy.

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http://dx.doi.org/10.3390/ijns4020012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510204PMC
June 2018

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.

Am J Med Genet A 2020 Oct 15. Epub 2020 Oct 15.

Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61916DOI Listing
October 2020

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases.

J Clin Med 2020 Aug 22;9(9). Epub 2020 Aug 22.

Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.

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http://dx.doi.org/10.3390/jcm9092716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563156PMC
August 2020

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).

Clin Chem Lab Med 2020 Aug 10. Epub 2020 Aug 10.

Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.

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http://dx.doi.org/10.1515/cclm-2020-0650DOI Listing
August 2020

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

Int J Dev Neurosci 2020 Jun 25;80(4):276-286. Epub 2020 Mar 25.

Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/jdn.10024DOI Listing
June 2020

Metal and essential element levels in hair and association with autism severity.

J Trace Elem Med Biol 2020 Jan 25;57:126409. Epub 2019 Sep 25.

Environmental and Food Hygiene Laboratory (LIAA), Department "G.F. Ingrassia", University of Catania, Catania, Italy.

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http://dx.doi.org/10.1016/j.jtemb.2019.126409DOI Listing
January 2020

CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases.

Methods Mol Biol 2019 ;2044:255-272

CNR, Istituto per i Polimeri, Compositi e i Biomateriali Catania, Catania, Italy.

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http://dx.doi.org/10.1007/978-1-4939-9706-0_16DOI Listing
May 2020

Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study.

Brain Sci 2019 Aug 14;9(8). Epub 2019 Aug 14.

Referral Center for Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, University of Catania. Via Santa Sofia 78, 95125 Catania, Italy.

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http://dx.doi.org/10.3390/brainsci9080200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721402PMC
August 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 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

A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses.

Front Psychiatry 2018 7;9:636. Epub 2018 Dec 7.

Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

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http://dx.doi.org/10.3389/fpsyt.2018.00636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292950PMC
December 2018

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):121. Epub 2018 Nov 16.

UOS Malattie Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, ATS Monza, Monza, Italy.

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0561-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238256PMC
November 2018

Study on the Role of Polymorphisms of the SOX-6 and MYB Genes and Fetal Hemoglobin Levels in Sicilian Patients with β-Thalassemia and Sickle Cell Disease.

Hemoglobin 2018 Mar;42(2):103-107

a Ospedale V. Cervello, Unità Operativa Complessa (UOC), Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici , Azienda Ospedali Riuniti Villa Sofia-Cervello , Palermo , Italia.

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http://dx.doi.org/10.1080/03630269.2018.1482832DOI Listing
March 2018

CSF N-Glycomics Using MALDI MS Techniques in Alzheimer's Disease.

Methods Mol Biol 2018 ;1750:75-91

CNR, Istituto per i Polimeri, Compositi e i Biomateriali Catania, Catania, Italy.

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http://dx.doi.org/10.1007/978-1-4939-7704-8_5DOI Listing
February 2019

Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome).

J Clin Neurol 2017 Oct 4;13(4):439-441. Epub 2017 Sep 4.

Department of Surgical Sciences and Advanced Technologies, Section of Neurosciences, Azienda Ospedaliero Universitaria "Policlinico-Vittorio Emanuele", Catania, Italy.

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http://dx.doi.org/10.3988/jcn.2017.13.4.439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653638PMC
October 2017

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

Am J Med Genet A 2017 Jun 13;173(6):1649-1655. Epub 2017 Apr 13.

Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38205DOI Listing
June 2017

Prominent neurological involvement in Dercum disease.

J Neurol 2017 Apr 13;264(4):796-798. Epub 2017 Feb 13.

Department of Neurology IC, Associazione OASI Maria SS, Troina, Italy.

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http://dx.doi.org/10.1007/s00415-017-8415-1DOI Listing
April 2017

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG).

Brain Dev 2017 04 4;39(4):366-367. Epub 2016 Dec 4.

Center for Metabolic Disease, Department of Pediatrics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.braindev.2016.11.008DOI Listing
April 2017

CSF N-glycoproteomics for early diagnosis in Alzheimer's disease.

J Proteomics 2016 Jan 9;131:29-37. Epub 2015 Oct 9.

Institute for Polymers, Composites and Biomaterials-CNR, Via P. Gaifami 18, 95126 Catania, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jprot.2015.10.006DOI Listing
January 2016

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

JIMD Rep 2016 10;27:93-9. Epub 2015 Oct 10.

Department of Pediatrics, Center for Metabolic Disease, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/8904_2015_497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867844PMC
May 2016

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.

Pediatr Neurol 2015 Oct 8;53(4):e15. Epub 2015 Jul 8.

Regional Referral Center for Metabolic Diseases, Department of Pediatrics, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.06.017DOI Listing
October 2015

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

J Neurol 2015 Jan 30;262(1):154-64. Epub 2014 Oct 30.

Pediatric Neurology Policlinico, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy,

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http://dx.doi.org/10.1007/s00415-014-7549-7DOI Listing
January 2015

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Semin Neurol 2014 Jul 5;34(3):357-66. Epub 2014 Sep 5.

Department of Pediatrics, Center for Metabolic Disease, KULeuven, Leuven, Belgium.

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http://dx.doi.org/10.1055/s-0034-1387197DOI Listing
July 2014

Deferiprone versus deferoxamine in sickle cell disease: results from a 5-year long-term Italian multi-center randomized clinical trial.

Blood Cells Mol Dis 2014 Dec 9;53(4):265-71. Epub 2014 May 9.

Unita'Operativa Complessa Ematologia II, A.O.R. Villa Sofia-V. Cervello, Palermo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2014.04.004DOI Listing
December 2014

Imaging findings of mucopolysaccharidoses: a pictorial review.

Insights Imaging 2013 Aug 5;4(4):443-59. Epub 2013 May 5.

Radiodiagnostic and Oncological Radiotherapy Unit, University Hospital "Policlinico-Vittorio Emanuele", Via Santa Sofia 78, 95123, Catania, Italy,

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http://dx.doi.org/10.1007/s13244-013-0246-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3731470PMC
August 2013

An unknown cause of aortic valve stenosis: polycythemia vera.

J Thromb Thrombolysis 2013 Feb;35(2):282-5

Medical Clinic Riabiliter, Via Albiri 3, 90100 Palermo, Italy.

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http://dx.doi.org/10.1007/s11239-012-0786-7DOI Listing
February 2013

Glycomics of pediatric and adulthood diseases of the central nervous system.

J Proteomics 2012 Sep 16;75(17):5123-39. Epub 2012 Jul 16.

Pediatric Neurology Unit, Dept. of Pediatrics, University of Catania, Via S. Sofia 78, 95125 Catania, Italy.

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http://dx.doi.org/10.1016/j.jprot.2012.07.007DOI Listing
September 2012

Early miglustat therapy in infantile Niemann-Pick disease type C.

Pediatr Neurol 2012 Jul;47(1):40-3

Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.005DOI Listing
July 2012

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.

Acta Neurol Belg 2012 Mar 9;112(1):57-64. Epub 2012 Feb 9.

Biochemistry and Molecular Biology Section, Department of Chemistry, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1007/s13760-012-0042-0DOI Listing
March 2012

Erythrocyte deformability evaluated by laser diffractometry in polycythemia vera.

Clin Hemorheol Microcirc 2012 ;50(3):189-92

Dipartimento di Medicina Interna, Malattie Cardiovascolari e Nefrourologiche Università di Palermo, Italy.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/CH-2010-1422DOI Listing
October 2012

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.

J Inherit Metab Dis 2011 Aug 8;34(4):891-9. Epub 2011 Mar 8.

CNR - Institute of Chemistry and Technology of Polymers, Via P. Gaifami 18, 95126, Catania, Italy.

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http://dx.doi.org/10.1007/s10545-011-9306-8DOI Listing
August 2011

Relapsing or refractory idiopathic thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: the role of rituximab.

Transfusion 2010 Dec;50(12):2753-60

Cattedra ed U.O. di Ematologia con trapianto, U.O. di Immunoematologia e Servizio Trasfusionale, and U.O. di Neurologia, Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone di Palermo, Palermo, Italy.

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http://dx.doi.org/10.1111/j.1537-2995.2010.02763.xDOI Listing
December 2010

Outcome of psychiatric symptoms presenting at onset of multiple sclerosis: a retrospective study.

Mult Scler 2010 Jun 29;16(6):742-8. Epub 2010 Mar 29.

Department of Neurosciences, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1177/1352458510365157DOI Listing
June 2010

Correlation between leukocytosis and thrombosis in Philadelphia-negative chronic myeloproliferative neoplasms.

Ann Hematol 2009 Oct 13;88(10):967-71. Epub 2009 Feb 13.

Cattedra ed U.O. di Ematologia, Azienda Ospedaliera Universitaria Policlinico di Palermo, Via del Vespro 127, I-90127, Palermo, Italy.

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http://dx.doi.org/10.1007/s00277-009-0706-xDOI Listing
October 2009

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

Mass spectrometry in the characterization of human genetic N-glycosylation defects.

Mass Spectrom Rev 2009 May-Jun;28(3):517-42

Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy.

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http://dx.doi.org/10.1002/mas.20201DOI Listing
June 2009

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Am J Med Genet A 2008 Aug;146A(16):2103-8

Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32446DOI Listing
August 2008

Chitotriosidase and Alzheimer's disease.

Curr Alzheimer Res 2007 Jul;4(3):295-6

Institute of Clinical Neurology, University of Sassari, Italy.

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http://dx.doi.org/10.2174/156720507781077232DOI Listing
July 2007

Plasma chitotriosidase in health and pathology.

Clin Lab 2007 ;53(5-6):321-33

Institute of Chemistry and Technology of Polymers, National Research Council (CNR), Catania, Italy.

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January 2008

Synchronic macrophage response and Plasmodium falciparum malaria.

J Vector Borne Dis 2006 Jun;43(2):84-7

Department of Biomedical Sciences, University of Catania, Italy.

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June 2006

Chitotriosidase in patients with acute ischemic stroke.

Eur Neurol 2005 24;54(3):149-53. Epub 2005 Nov 24.

Institute of Clinical Neurology, University of Sassari, Italy.

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http://dx.doi.org/10.1159/000089935DOI Listing
January 2006

Callosal anomalies with interhemispheric cyst: expanding the phenotype.

Acta Paediatr 2005 Aug;94(8):1066-72

Department of Paediatrics, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1111/j.1651-2227.2005.tb02047.xDOI Listing
August 2005

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Glycobiology 2005 Dec 21;15(12):1268-76. Epub 2005 Jul 21.

Istituto di Chimica e Tecnolgia dei Polimeri, CNA, Viale Regina Margherita 6, I-95123 Catania, Italy.

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http://dx.doi.org/10.1093/glycob/cwj021DOI Listing
December 2005

Chitotriosidase activity in colostrum from African and Caucasian women.

Clin Chem Lab Med 2005 ;43(2):198-201

Department of Biomedical Sciences, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1515/CCLM.2005.034DOI Listing
August 2005

Startle epilepsy complicating aspartylglucosaminuria.

Brain Dev 2004 Mar;26(2):130-3

Institute of Neurology, School of Medicine, University Magna Graecia, Via T. Campanella, Italy.

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http://dx.doi.org/10.1016/S0387-7604(03)00069-XDOI Listing
March 2004

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Biochem J 2004 May;380(Pt 1):51-6

Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli Federico II, Via S. Pansini 5, I-80131 Napoli, Italy.

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http://dx.doi.org/10.1042/BJ20031941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1224144PMC
May 2004

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria.

Clin Chim Acta 2003 May;331(1-2):79-85

Institute of Neurological Sciences-Catania Section, Council of National Research (CNR), Italy.

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http://dx.doi.org/10.1016/s0009-8981(03)00089-5DOI Listing
May 2003

White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.

J Neurol Sci 2002 Mar;195(2):171-5

Divisione di Neurologia Pediatrica, Clinica Pediatrica, Università di Catania, Viale Andrea Doria 6-95125, Catania, Italy.

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http://dx.doi.org/10.1016/s0022-510x(02)00014-xDOI Listing
March 2002

Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease.

J Bone Miner Metab 2002 ;20(1):34-8

Department of Internal Medicine. University of Catania, Italy.

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http://dx.doi.org/10.1007/s774-002-8444-1DOI Listing
July 2002