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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: botha j. 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.
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158".
Hughes DA, Deegan P, Giraldo P, Göker-Alpan Ö, Lau H, Lukina E, Revel-Vilk S, Scarpa M, Botha J, Gadir N, Zimran A; GOS Steering Committee. Hughes DA, et al. Among authors: botha j. J Clin Med. 2023 Jun 13;12(12):4017. doi: 10.3390/jcm12124017. J Clin Med. 2023. PMID: 37373710 Free PMC article.
Improvement in diagnostic delays over time in patients with hereditary angioedema: findings from the Icatibant Outcome Survey.
Zanichelli A, Magerl M, Longhurst HJ, Aberer W, Caballero T, Bouillet L, Bygum A, Grumach AS, Botha J, Andresen I, Maurer M; IOS Study Group. Zanichelli A, et al. Among authors: botha j. Clin Transl Allergy. 2018 Oct 12;8:42. doi: 10.1186/s13601-018-0229-4. eCollection 2018. Clin Transl Allergy. 2018. PMID: 30338053 Free PMC article.
Elderly versus younger patients with hereditary angioedema type I/II: patient characteristics and safety analysis from the Icatibant Outcome Survey.
Bygum A, Caballero T, Grumach AS, Longhurst HJ, Bouillet L, Aberer W, Zanichelli A, Botha J, Andresen I, Maurer M; IOS Study Group. Bygum A, et al. Among authors: botha j. Clin Transl Allergy. 2019 Jul 19;9:37. doi: 10.1186/s13601-019-0272-9. eCollection 2019. Clin Transl Allergy. 2019. PMID: 31360439 Free PMC article.
493 results