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

Year Number of Results
1986 2
1988 2
1990 1
1994 1
1995 1
1996 2
1997 1
1998 6
1999 3
2000 5
2001 2
2002 2
2003 1
2005 4
2006 3
2007 2
2008 4
2009 5
2010 7
2011 5
2012 5
2013 4
2014 5
2015 5
2016 5
2018 2
2022 1
2026 1

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79 results

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Page 1
Genotype analysis of Fabry disease in a Spanish at-risk population reveals 10 novel GLA variants.
Ugalde-Altamirano J, Gort L, Rovira J, Coll MJ, Reinoso JP, Piñeiro GJ, Sanchez A, Cucchiari D, Iranzo P, Obach V, Casanova J, Diaz P, Yagüe J, Prat S, García A, Corral-Velez V, Campistol JM, Torregrosa JV. Ugalde-Altamirano J, et al. Among authors: coll mj. Sci Rep. 2026 Jul 14. doi: 10.1038/s41598-026-62249-0. Online ahead of print. Sci Rep. 2026. PMID: 42448825 Free article.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Bolton SC, et al. Among authors: coll mj. Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. Orphanet J Rare Dis. 2022. PMID: 35164809 Free PMC article.
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: coll mj. 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.
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Vanier MT, et al. Among authors: coll mj. Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Mol Genet Metab. 2016. PMID: 27339554 Free article. Review.
79 results