Rossella Parini

Rossella Parini

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Rossella Parini

Rossella Parini

Publications by authors named "Rossella Parini"

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Novel mutations in two unrelated Italian patients with SSADH deficiency.

Metab Brain Dis 2019 Oct 2;34(5):1515-1518. Epub 2019 Jul 2.

Department of Biology, University of Rome Tor Vergata, Via della Ricerca Scientifica, snc, 00133, Rome, Italy.

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http://dx.doi.org/10.1007/s11011-019-00453-wDOI Listing
October 2019

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Mol Genet Metab 2019 Aug 2;127(4):355-360. Epub 2019 Jul 2.

BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.06.008DOI Listing
August 2019

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.

J Inherit Metab Dis 2019 May 6. Epub 2019 May 6.

Department of Pediatrics, Fondazione MBBM, ATS Monza, University Hospital San Gerardo, Monza, Italy.

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http://dx.doi.org/10.1002/jimd.12108DOI Listing
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

The new frame for Mucopolysaccharidoses.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):117. Epub 2018 Nov 16.

Pediatric Clinic, Fondazione MBBM, Ospedale San Gerardo, via Pergolesi 33, Monza, Italy.

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http://dx.doi.org/10.1186/s13052-018-0549-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238248PMC
November 2018

Enzyme replacement therapy: efficacy and limitations.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):120. Epub 2018 Nov 16.

UOS Malattie Metaboliche Rare, Clinica Pediatrica dell'Università Milano Bicocca, Fondazione MBBM, ATS Monza e Brianza, Via Pergolesi 33, 20900, Monza, Italy.

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0562-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238252PMC
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

Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.

Mol Genet Metab 2018 08 28;124(4):230-237. Epub 2018 Jun 28.

Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40126 Bologna, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2018.06.014DOI Listing
August 2018

Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patients.

Paediatr Anaesth 2018 05 23;28(5):436-442. Epub 2018 Apr 23.

Department of Perioperative Medicine and Intensive Care, San Gerardo Hospital, Monza, Italy.

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http://dx.doi.org/10.1111/pan.13379DOI Listing
May 2018

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Am J Med Genet A 2018 02 6;176(2):301-310. Epub 2017 Dec 6.

Rare Metabolic Disease Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.38551
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http://dx.doi.org/10.1002/ajmg.a.38551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814921PMC
February 2018

Facing up to limits: a lesson from the Charlie Gard case.

Minerva Anestesiol 2018 02 13;84(2):261-262. Epub 2017 Dec 13.

Unit of Intensive Care, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

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http://dx.doi.org/10.23736/S0375-9393.17.12554-XDOI Listing
February 2018

[Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management].

G Ital Cardiol (Rome) 2017 Sep;18(9):638-649

U.O. Cardiologia Pediatrica e U.O. di Riabilitazione e Scompenso Cardiaco, Ospedale Monaldi, A.O. dei Colli, Dipartimento di Scienze Cardio-Toraciche e Respiratorie, Seconda Università degli Studi, Napoli - GICEM Core Writers Cardiologi.

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http://dx.doi.org/10.1714/2741.27947DOI Listing
September 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

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

Biochim Biophys Acta Mol Basis Dis 2017 02 1;1863(2):386-394. Epub 2016 Dec 1.

Institute of Medical Science, University of Toronto, Toronto M5G 1L7, Canada; Department of Medical Biophysics, University of Toronto, Toronto M5G 1L7, Canada; University Health Network, Toronto M5G 1L7, Canada; Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.11.031DOI Listing
February 2017

Craniovertebral junction pathological features and their management in the mucopolysaccharidoses.

Adv Tech Stand Neurosurg 2014 ;40:313-31

Clinica Neurochirurgica, Università degli Studi Milano-Bicocca, Ospedale San Gerardo, via Pergolesi 33, Monza (MB), 20900, Italy,

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http://dx.doi.org/10.1007/978-3-319-01065-6_11DOI Listing
April 2016

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2016 Apr 25;117(4):438-46. Epub 2016 Jan 25.

Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, 2525 Chicago Ave South, CSC 560, Minneapolis, MN 55404, USA; Department of Pediatrics, Division of Genetics, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.009DOI Listing
April 2016

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Clin Chim Acta 2016 Jan 1;452:82-6. Epub 2015 Nov 1.

Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, viale Pieraccini 24, 50139 Firenze, Italy; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, viale Pieraccini 24, 50139 Firenze, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.10.027DOI Listing
January 2016

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.

Pediatr Res 2015 Dec 2;78(6):717-22. Epub 2015 Sep 2.

UCSF Benioff Children's Hospital Oakland, Department of Gastroenterology, Oakland, California.

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http://dx.doi.org/10.1038/pr.2015.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700045PMC
December 2015

Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccines.

Vaccine 2015 Nov 27;33(48):6520-4. Epub 2015 Oct 27.

Paediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0264410X150150
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http://dx.doi.org/10.1016/j.vaccine.2015.10.073DOI Listing
November 2015

Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.

JIMD Rep 2014 12;17:91-5. Epub 2014 Oct 12.

Department of Pediatrics, San Gerardo Hospital, University of Milano Bicocca, Monza, Italy.

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http://dx.doi.org/10.1007/8904_2014_343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241197PMC
November 2014

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease.

Eur J Intern Med 2014 Oct 12;25(8):751-6. Epub 2014 Aug 12.

Rare Metabolic Diseases Unit, Paediatric Clinic, San Gerardo Hospital, University Milano Bicocca, Monza, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2014.07.009DOI Listing
October 2014

Functional analysis of 11 novel GBA alleles.

Eur J Hum Genet 2014 Apr 11;22(4):511-6. Epub 2013 Sep 11.

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

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http://dx.doi.org/10.1038/ejhg.2013.182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953908PMC
April 2014

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2013 May 14;109(1):41-8. Epub 2013 Mar 14.

Genetic Medicine, Manchester Academic Health Science Centre, St Mary's Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130009
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http://dx.doi.org/10.1016/j.ymgme.2013.03.001DOI Listing
May 2013

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

J Neurol 2012 Dec 19;259(12):2699-706. Epub 2012 Jun 19.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100 Brescia, Italy.

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http://dx.doi.org/10.1007/s00415-012-6572-9DOI Listing
December 2012

Metabolic screening for the newborn.

J Matern Fetal Neonatal Med 2011 Oct;24 Suppl 2:6-8

Rare Metabolic Diseases Unit, Pediatric Clinic, San Gerardo Hospital, University Milano Bicocca, Monza, Italy.

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http://www.tandfonline.com/doi/full/10.3109/14767058.2011.60
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http://dx.doi.org/10.3109/14767058.2011.606617DOI Listing
October 2011

Modelling the resource implications of managing adults with Fabry disease in Italy.

Eur J Clin Invest 2011 Jul 8;41(7):710-8. Epub 2011 Feb 8.

Catalyst Health Economics Consultants, Northwood, Middlesex, UK.

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http://dx.doi.org/10.1111/j.1365-2362.2010.02458.xDOI Listing
July 2011

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

J Inherit Metab Dis 2010 Dec 14;33(6):727-35. Epub 2010 Sep 14.

Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9201
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http://link.springer.com/10.1007/s10545-010-9201-8
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http://dx.doi.org/10.1007/s10545-010-9201-8DOI Listing
December 2010

Therapeutic goals in the treatment of Fabry disease.

Genet Med 2010 Nov;12(11):713-20

The Royal Free Hospital, University College London School of Medicine, London, United Kingdom.

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http://dx.doi.org/10.1097/GIM.0b013e3181f6e676DOI Listing
November 2010

Intravenous enzyme replacement therapy: hospital vs home.

Br J Nurs 2010 Jul 22-Aug 11;19(14):892-4, 896-8

Rare Metabolic Diseases Unit, Department of Paediatrics, San Gerardo Hospital, Monza, Italy.

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http://dx.doi.org/10.12968/bjon.2010.19.14.49047DOI Listing
September 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

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses.

Cardiol Young 2009 Apr 6;19(2):170-8. Epub 2009 Feb 6.

Department of Pediatric Cardiology, Cardiovascular Center, Policlinico San Donato, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.

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http://dx.doi.org/10.1017/S1047951109003576DOI Listing
April 2009

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

J Hepatol 2009 Jan 31;50(1):215-21. Epub 2008 Oct 31.

Rare Metabolic Diseases Unit Fondazione Mariani, Pediatric Unit, San Gerardo Hospital, Via Pergolesi 33, 20052 Monza, Italy.

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http://dx.doi.org/10.1016/j.jhep.2008.08.019DOI Listing
January 2009

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Eur J Hum Genet 2008 Nov 18;16(11):1311-7. Epub 2008 Jun 18.

Metabolic and Muscular Unit, Clinic of Pediatric Neurology, AOU Meyer, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/ejhg.2008.109DOI Listing
November 2008

Fabry disease: beyond men.

Acta Paediatr 2008 Apr;97(457):31-2

Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, UK.

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http://dx.doi.org/10.1111/j.1651-2227.2008.00642.xDOI Listing
April 2008

Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines.

Liver Transpl 2007 May;13(5):762-4

Pediatric Nephrology Unit, Maggiore Policlinico Hospital, Mangiagalli and Regina Elena Foundation, IRCCS, Milan, Italy.

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http://dx.doi.org/10.1002/lt.21147DOI Listing
May 2007

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

J Mol Med (Berl) 2006 Aug 13;84(8):692-700. Epub 2006 May 13.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, Largo G. Gaslini, Genova 16147, Italy.

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http://dx.doi.org/10.1007/s00109-006-0057-1DOI Listing
August 2006

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Nat Genet 2006 May 2;38(5):570-5. Epub 2006 Apr 2.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, Milan 20126, Italy.

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http://dx.doi.org/10.1038/ng1765DOI Listing
May 2006

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Eur J Pediatr 2005 Aug 19;164(8):501-8. Epub 2005 May 19.

Dipartimento di Pediatria, Università Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.

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http://dx.doi.org/10.1007/s00431-005-1657-4DOI Listing
August 2005

Coma and respiratory failure in a child with severe vitamin B(12) deficiency.

Pediatr Crit Care Med 2005 Jul;6(4):483-5

Terapia Intensiva Pediatrica, Ospedali Riuniti, Bergamo, Italy.

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http://dx.doi.org/10.1097/01.PCC.0000167565.30084.84DOI Listing
July 2005

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Brain 2005 Apr 2;128(Pt 4):723-31. Epub 2005 Feb 2.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Institute of Neurology, Milano, Italy.

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http://dx.doi.org/10.1093/brain/awh410DOI Listing
April 2005

The Fanconi-Bickel syndrome: a case of neonatal onset.

J Perinatol 2004 May;24(5):322-3

Division of Neonatology, Ospedale Bolognini, Seriate, Bergamo, Italy.

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http://dx.doi.org/10.1038/sj.jp.7211092DOI Listing
May 2004

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Eur J Pediatr 2003 Nov 20;162(11):767-72. Epub 2003 Sep 20.

Centre for Lysosomal Storage Disorders, Children's Hospital, Johannes Gutenberg-University, 55101 Mainz, Germany.

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http://link.springer.com/10.1007/s00431-003-1299-3
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http://dx.doi.org/10.1007/s00431-003-1299-3DOI Listing
November 2003