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54 results

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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Among authors: fecarotta s. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
microRNAs as biomarkers in Pompe disease.
Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G. Tarallo A, et al. Among authors: fecarotta s. Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997386 Free article.
Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.
Vijay S, Brassier A, Ghosh A, Fecarotta S, Abel F, Marulkar S, Jones SA. Vijay S, et al. Among authors: fecarotta s. Orphanet J Rare Dis. 2021 Mar 1;16(1):113. doi: 10.1186/s13023-021-01753-0. Orphanet J Rare Dis. 2021. PMID: 33648526 Free PMC article. No abstract available.
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
Gragnaniello V, Deodato F, Gasperini S, Donati MA, Canessa C, Fecarotta S, Pascarella A, Spadaro G, Concolino D, Burlina A, Parenti G, Strisciuglio P, Fiumara A, Casa RD. Gragnaniello V, et al. Among authors: fecarotta s. Ital J Pediatr. 2022 Mar 5;48(1):41. doi: 10.1186/s13052-022-01219-4. Ital J Pediatr. 2022. PMID: 35248118 Free PMC article. Review.
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A, Damiano C, Strollo S, Minopoli N, Indrieri A, Polishchuk E, Zappa F, Nusco E, Fecarotta S, Porto C, Coletta M, Iacono R, Moracci M, Polishchuk R, Medina DL, Imbimbo P, Monti DM, De Matteis MA, Parenti G. Tarallo A, et al. Among authors: fecarotta s. EMBO Mol Med. 2021 Nov 8;13(11):e14434. doi: 10.15252/emmm.202114434. Epub 2021 Oct 4. EMBO Mol Med. 2021. PMID: 34606154 Free PMC article.
54 results