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Page 1
The ethical framework for performing research with rare inherited neurometabolic disease patients.
Giannuzzi V, Devlieger H, Margari L, Odlind VL, Ragab L, Bellettato CM, D'Avanzo F, Lampe C, Cassis L, Cortès-Saladelafont E, Cazorla ÁG, Barić I, Cvitanović-Šojat L, Fumić K, Dali CI, Bartoloni F, Bonifazi F, Scarpa M, Ceci A. Giannuzzi V, et al. Among authors: dali ci. Eur J Pediatr. 2017 Mar;176(3):395-405. doi: 10.1007/s00431-017-2852-9. Epub 2017 Jan 16. Eur J Pediatr. 2017. PMID: 28093642 Free PMC article. Review.
Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy.
Farah MH, Dali CÍ, Groeschel S, Moldovan M, Whiteman DAH, Malanga CJ, Krägeloh-Mann I, Li J, Barton N, Krarup C. Farah MH, et al. Among authors: dali ci. Ann Clin Transl Neurol. 2024 Feb;11(2):328-341. doi: 10.1002/acn3.51954. Epub 2023 Dec 26. Ann Clin Transl Neurol. 2024. PMID: 38146590 Free PMC article. Clinical Trial.
Metachromatic Leukodystrophy: An Assessment of Disease Burden.
Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A. Eichler FS, et al. Among authors: dali ci. J Child Neurol. 2016 Nov;31(13):1457-1463. doi: 10.1177/0883073816656401. Epub 2016 Jul 7. J Child Neurol. 2016. PMID: 27389394
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á. Cassis L, et al. Among authors: dali ci. Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Orphanet J Rare Dis. 2015. PMID: 26714856 Free PMC article. Review.
Correction to: 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, Dali CÍ. Mengel E, et al. Among authors: dali ci. Orphanet J Rare Dis. 2021 Jun 1;16(1):246. doi: 10.1186/s13023-021-01855-9. Orphanet J Rare Dis. 2021. PMID: 34074315 Free PMC article. No abstract available.
20 results