Miriam Rigoldi

Miriam Rigoldi

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Miriam Rigoldi

Miriam Rigoldi

Publications by authors named "Miriam Rigoldi"

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25Publications

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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

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

Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):132. Epub 2018 Nov 16.

Patologie dell'apparato locomotore a genesi immunologica, Università di Modena e Reggio Emilia, Azienda Ospedaliero-Universitaria, Policlinico di Modena, Modena, Italy.

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0551-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238261PMC
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

Hepatocellular carcinoma in Gaucher disease: an international case series.

J Inherit Metab Dis 2018 09 8;41(5):819-827. Epub 2018 Feb 8.

Department of Internal Medicine, division of Endocrinology & Metabolism, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0142-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133179PMC
September 2018

Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.

JIMD Rep 2014 21;14:47-53. Epub 2013 Dec 21.

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

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http://dx.doi.org/10.1007/8904_2013_283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213326PMC
October 2014

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

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