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

Year Number of Results
2003 1
2005 1
2006 4
2007 2
2008 3
2009 3
2010 2
2011 2
2012 3
2013 4
2014 3
2015 4
2016 6
2017 6
2018 6
2019 10
2020 8
2021 10
2022 6
2023 7
2024 3

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82 results

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Page 1
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
Beck M, Ramaswami U, Hernberg-Ståhl E, Hughes DA, Kampmann C, Mehta AB, Nicholls K, Niu DM, Pintos-Morell G, Reisin R, West ML, Schenk J, Anagnostopoulou C, Botha J, Giugliani R. Beck M, et al. Among authors: ramaswami u. Orphanet J Rare Dis. 2022 Jun 20;17(1):238. doi: 10.1186/s13023-022-02392-9. Orphanet J Rare Dis. 2022. PMID: 35725623 Free PMC article. Review.
International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.
Watts GF, Gidding SS, Hegele RA, Raal FJ, Sturm AC, Jones LK, Sarkies MN, Al-Rasadi K, Blom DJ, Daccord M, de Ferranti SD, Folco E, Libby P, Mata P, Nawawi HM, Ramaswami U, Ray KK, Stefanutti C, Yamashita S, Pang J, Thompson GR, Santos RD. Watts GF, et al. Among authors: ramaswami u. Nat Rev Cardiol. 2023 Dec;20(12):845-869. doi: 10.1038/s41569-023-00892-0. Epub 2023 Jun 15. Nat Rev Cardiol. 2023. PMID: 37322181 Review.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: ramaswami u. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
Editorial: Genetics of Familial Hypercholesterolemia: New Insight.
Vuorio A, Ramaswami U, Holven KB. Vuorio A, et al. Among authors: ramaswami u. Front Genet. 2021 May 6;12:669373. doi: 10.3389/fgene.2021.669373. eCollection 2021. Front Genet. 2021. PMID: 34025723 Free PMC article. No abstract available.
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: ramaswami u. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U. Vuorio A, et al. Among authors: ramaswami u. Cochrane Database Syst Rev. 2017 Jul 7;7(7):CD006401. doi: 10.1002/14651858.CD006401.pub4. Cochrane Database Syst Rev. 2017. PMID: 28685504 Free PMC article. Updated. Review.
The definition of neuronopathic Gaucher disease.
Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, Vellodi A, Mengel E, Lukina E, Yoo HW, Collin-Histed T, Narita A, Dinur T, Revel-Vilk S, Arkadir D, Szer J, Wajnrajch M, Ramaswami U, Sidransky E, Donald A, Zimran A. Schiffmann R, et al. Among authors: ramaswami u. J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3. J Inherit Metab Dis. 2020. PMID: 32242941 Free PMC article.
82 results