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Page 1
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
Patterson MC, Lloyd-Price L, Guldberg C, Doll H, Burbridge C, Chladek M, íDali C, Mengel E, Symonds T. Patterson MC, et al. Among authors: idali c. Orphanet J Rare Dis. 2021 Feb 12;16(1):79. doi: 10.1186/s13023-021-01719-2. Orphanet J Rare Dis. 2021. PMID: 33579322 Free PMC article.
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM. Cortina-Borja M, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9. Orphanet J Rare Dis. 2018. PMID: 30115089 Free PMC article.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, Í Dali C. Mengel E, et al. Orphanet J Rare Dis. 2020 Nov 23;15(1):328. doi: 10.1186/s13023-020-01616-0. Orphanet J Rare Dis. 2020. PMID: 33228797 Free PMC article.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study.
Í Dali C, Groeschel S, Moldovan M, Farah MH, Krägeloh-Mann I, Wasilewski M, Li J, Barton N, Krarup C. Í Dali C, et al. Ann Clin Transl Neurol. 2021 Jan;8(1):66-80. doi: 10.1002/acn3.51254. Epub 2020 Dec 17. Ann Clin Transl Neurol. 2021. PMID: 33332761 Free PMC article. Clinical Trial.
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