Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

46 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: rigoldi m. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.
Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, Concolino D, Strisciuglio P, Feriozzi S, Di Vito R, Ravaglia R, Ricci R, Morrone A. Parini R, et al. Among authors: rigoldi m. Clin Genet. 2008 Sep;74(3):260-6. doi: 10.1111/j.1399-0004.2008.01012.x. Epub 2008 Apr 24. Clin Genet. 2008. PMID: 18445046
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. Persichetti E, et al. Among authors: rigoldi m. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. Hum Mutat. 2009. PMID: 19370764
Intravenous enzyme replacement therapy: hospital vs home.
Parini R, Pozzi K, Di Mauro S, Furlan F, Rigoldi M. Parini R, et al. Among authors: rigoldi m. Br J Nurs. 2010 Jul 22-Aug 11;19(14):892-4, 896-8. doi: 10.12968/bjon.2010.19.14.49047. Br J Nurs. 2010. PMID: 20647981
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: rigoldi m. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, Gentiloni Silveri N, Colasante A, Funghini S, Catarzi S, Pasquini E, la Marca G, Mooney S, Guerrini R, Morrone A. Cavicchi C, et al. Among authors: rigoldi m. Orphanet J Rare Dis. 2014 Jul 16;9:105. doi: 10.1186/s13023-014-0105-9. Orphanet J Rare Dis. 2014. PMID: 25026867 Free PMC article.
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.
Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, Falvo F, Fiumara A, Maccarone M, Manna R, Matucci A, Musumeci MB, Nicoletti A, Nisticò R, Papadia F, Parini R, Peluso D, Pensabene L, Pisani A, Pistone G, Rigoldi M, Romani I, Tenuta M, Torti G, Veroux M, Zachara E. Concolino D, et al. Among authors: rigoldi m. Mol Genet Metab Rep. 2017 Jun 22;12:85-91. doi: 10.1016/j.ymgmr.2017.06.005. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28702361 Free PMC article.
46 results