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

Year Number of Results
1983 2
1984 3
1985 4
1986 2
1987 5
1988 3
1989 8
1990 6
1991 9
1992 6
1993 2
1994 5
1995 5
1996 3
1997 12
1998 2
1999 8
2000 5
2001 6
2002 5
2003 6
2004 13
2005 16
2006 6
2007 27
2008 34
2009 30
2010 36
2011 42
2012 24
2013 38
2014 34
2015 34
2016 23
2017 45
2018 33
2019 35
2020 29
2021 52
2022 44
2023 49
2024 44
2025 37
2026 1

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738 results

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Page 1
Mucopolysaccharidosis Type II.
Scarpa M, Lampe C. Scarpa M, et al. 2007 Nov 6 [updated 2025 Jan 16]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2007 Nov 6 [updated 2025 Jan 16]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301451 Free Books & Documents. Review.
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. Among authors: scarpa m. 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.
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: scarpa m. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Wasserstein M, Lachmann R, Hollak C, Arash-Kaps L, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Chen Y, Furey S, Thurberg BL, Zaher A, Kumar M. Wasserstein M, et al. Among authors: scarpa m. Genet Med. 2022 Jul;24(7):1425-1436. doi: 10.1016/j.gim.2022.03.021. Epub 2022 Apr 26. Genet Med. 2022. PMID: 35471153 Free article. Clinical Trial.
Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.
González L, Díaz L, Pous J, Baginski B, Duran-Corbera A, Scarpa M, Brun-Heath I, Igea A, Martin-Malpartida P, Ruiz L, Pallara C, Esguerra M, Colizzi F, Mayor-Ruiz C, Biondi RM, Soliva R, Macias MJ, Orozco M, Nebreda AR. González L, et al. Among authors: scarpa m. Nat Commun. 2023 Jun 12;14(1):3318. doi: 10.1038/s41467-023-39051-x. Nat Commun. 2023. PMID: 37308482 Free PMC article.
Liquid biopsy to identify Barrett's oesophagus, dysplasia and oesophageal adenocarcinoma: the EMERALD multicentre study.
Miyoshi J, Mannucci A, Scarpa M, Gao F, Toden S, Whitsett T, Inge LJ, Bremner RM, Takayama T, Cheng Y, Bottiglieri T, Nagtegaal ID, Shrubsole MJ, Zaidi AH, Wang X, Coleman HG, Anderson LA, Meltzer SJ, Goel A; FINBAR-EMERALD collaborative group. Miyoshi J, et al. Among authors: scarpa m. Gut. 2025 Jan 17;74(2):169-181. doi: 10.1136/gutjnl-2024-333364. Gut. 2025. PMID: 39562048
Appendicectomy for ulcerative colitis.
Scarpa M, Castagliuolo I, Kotsafti A, Angriman I, Scarpa M. Scarpa M, et al. Lancet Gastroenterol Hepatol. 2025 Sep;10(9):788. doi: 10.1016/S2468-1253(25)00151-7. Lancet Gastroenterol Hepatol. 2025. PMID: 40782810 No abstract available.
The blood-brain barrier friend or foe?
Scarpa M, Begley D. Scarpa M, et al. J Inherit Metab Dis. 2013 May;36(3):435-6. doi: 10.1007/s10545-013-9609-z. J Inherit Metab Dis. 2013. PMID: 23620469 No abstract available.
Newborn Screening in a Pandemic-Lessons Learned.
Mlinaric M, Bonham JR, Kožich V, Kölker S, Majek O, Battelino T, Torkar AD, Koracin V, Perko D, Remec ZI, Lampret BR, Scarpa M, Schielen PCJI, Zetterström RH, Groselj U. Mlinaric M, et al. Among authors: scarpa m. Int J Neonatal Screen. 2023 Apr 11;9(2):21. doi: 10.3390/ijns9020021. Int J Neonatal Screen. 2023. PMID: 37092515 Free PMC article. Review.
738 results