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Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.
Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M. Stepien KM, et al. Among authors: scarpa m. Front Med (Lausanne). 2021 Feb 25;8:652358. doi: 10.3389/fmed.2021.652358. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33738294 Free PMC article.
Pathophysiology of neuropathic lysosomal storage disorders.
Bellettato CM, Scarpa M. Bellettato CM, et al. Among authors: scarpa m. J Inherit Metab Dis. 2010 Aug;33(4):347-62. doi: 10.1007/s10545-010-9075-9. Epub 2010 Apr 29. J Inherit Metab Dis. 2010. PMID: 20429032 Review.
Mucopolysaccharidoses and other lysosomal storage diseases.
Lampe C, Bellettato CM, Karabul N, Scarpa M. Lampe C, et al. Among authors: scarpa m. Rheum Dis Clin North Am. 2013 May;39(2):431-55. doi: 10.1016/j.rdc.2013.03.004. Rheum Dis Clin North Am. 2013. PMID: 23597973 Review.
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: scarpa m. 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.
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: scarpa m. 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.
683 results