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 Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 2
1983 1
1987 1
1988 1
1992 2
1995 2
1996 3
1997 1
1998 3
1999 4
2000 3
2001 1
2002 2
2003 3
2004 2
2006 1
2007 2
2008 2
2009 2
2010 1
2011 2
2012 2
2013 3
2014 4
2016 3
2018 1
2019 2
2020 1
2021 2
2024 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

56 results

Results by year

Filters applied: . Clear all
Page 1
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Unusual renal presentation of Fabry disease in a female patient.
Abaterusso C, De Biase V, Salviati A, Fabris A, Millardi D, Tomei P, Bernich P, Lupo A, Gambaro G. Abaterusso C, et al. Among authors: salviati a. Nat Rev Nephrol. 2009 Jun;5(6):349-54. doi: 10.1038/nrneph.2009.71. Epub 2009 Apr 28. Nat Rev Nephrol. 2009. PMID: 19399018 Review.
Oxidative stress biomarkers in Fabry disease: is there a room for them?
Simoncini C, Torri S, Montano V, Chico L, Gruosso F, Tuttolomondo A, Pinto A, Simonetta I, Cianci V, Salviati A, Vicenzi V, Marchi G, Girelli D, Concolino D, Sestito S, Zedde M, Siciliano G, Mancuso M. Simoncini C, et al. Among authors: salviati a. J Neurol. 2020 Dec;267(12):3741-3752. doi: 10.1007/s00415-020-10044-w. Epub 2020 Jul 27. J Neurol. 2020. PMID: 32719972 Free PMC article.
Vascular dementia in a population-based autopsy study.
Knopman DS, Parisi JE, Boeve BF, Cha RH, Apaydin H, Salviati A, Edland SD, Rocca WA. Knopman DS, et al. Among authors: salviati a. Arch Neurol. 2003 Apr;60(4):569-75. doi: 10.1001/archneur.60.4.569. Arch Neurol. 2003. PMID: 12707071
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
Mancuso M, Conforti FL, Rocchi A, Tessitore A, Muglia M, Tedeschi G, Panza D, Monsurrò M, Sola P, Mandrioli J, Choub A, DelCorona A, Manca ML, Mazzei R, Sprovieri T, Filosto M, Salviati A, Valentino P, Bono F, Caracciolo M, Simone IL, La Bella V, Majorana G, Siciliano G, Murri L, Quattrone A. Mancuso M, et al. Among authors: salviati a. Neurosci Lett. 2004 Nov 23;371(2-3):158-62. doi: 10.1016/j.neulet.2004.08.060. Neurosci Lett. 2004. PMID: 15519748
No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.
Barizzone N, Pauwels I, Luciano B, Franckaert D, Guerini FR, Cosemans L, Hilven K, Salviati A, Dooley J, Danso-Abeam D, di Sapio A, Cavalla P, Decallonne B, Mathieu C, Liston A, Leone M, Dubois B, D'Alfonso S, Goris A. Barizzone N, et al. Among authors: salviati a. Ann Neurol. 2013 Mar;73(3):433-7. doi: 10.1002/ana.23834. Epub 2013 Mar 11. Ann Neurol. 2013. PMID: 23483640
Mitochondrial DNA haplogroups may influence Fabry disease phenotype.
Simoncini C, Chico L, Concolino D, Sestito S, Fancellu L, Boadu W, Sechi GP, Feliciani C, Gnarra M, Zampetti A, Salviati A, Scarpelli M, Orsucci D, Bonuccelli U, Siciliano G, Mancuso M. Simoncini C, et al. Among authors: salviati a. Neurosci Lett. 2016 Aug 26;629:58-61. doi: 10.1016/j.neulet.2016.06.051. Epub 2016 Jun 27. Neurosci Lett. 2016. PMID: 27365132
56 results