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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2005 3
2006 1
2007 3
2008 9
2009 7
2010 10
2011 12
2012 7
2013 14
2014 8
2015 7
2016 4
2017 12
2018 4
2019 7
2020 6
2021 13
2022 12
2023 18
2024 14
2025 14
2026 1

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165 results

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Page 1
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.
Spada M, Gasperini S, Filosto M, Astrea G, Bracci B, Bruno C, Burlina A, Cavallini A, Concolino D, Crescitelli V, D'Amico A, Deodato F, Dionisi-Vici C, Donati MA, Fecarotta S, Fischetto R, Fiumara A, Furlan F, Gragnaniello V, Mala D, Marica M, Menni F, Pagliardini V, Panicucci C, Parenti G, Pession A, Ricci F, Rovelli V, Sacchini M, Santorelli FM, Santoro L, Scarpa M, Taurisano R, Tummolo A, Porta F. Spada M, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2025 Nov 28;20(1):616. doi: 10.1186/s13023-025-04063-x. Orphanet J Rare Dis. 2025. PMID: 41316280 Free PMC article.
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.
Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Brighina F, Barone R, Cianflone A, Balzarini M, Parini R, Scarpa M. Toscano A, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2025 Nov 21. doi: 10.1186/s13023-025-04108-1. Online ahead of print. Orphanet J Rare Dis. 2025. PMID: 41272769 Free article. No abstract available.
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.
Muenzer J, Botha J, Amartino H, Giugliani R, Harmatz P, Kampmann C, Link B, Lin SP, Molter D, Raiman J, Scarpa M, Tylki-Szymańska A, Jain S, Whiteman DAH, Burton BK. Muenzer J, et al. Among authors: scarpa m. Mol Genet Metab. 2025 Dec;146(4):109284. doi: 10.1016/j.ymgme.2025.109284. Epub 2025 Nov 2. Mol Genet Metab. 2025. PMID: 41232197 Free article.
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.
Limongelli G, De Iaco F, Mosca M, Pecchia L, Piccinocchi G, Sangiorgi L, Scarpa M, Cafiero D, Politi L, Tedone F, Forte A, Caiazza M, De Stasio C, Fusco A, Morgillo B, Scala I, Scopinaro A, Facchin P; Argo Working Group. Limongelli G, et al. Among authors: scarpa m. Sci Rep. 2025 Nov 11;15(1):39411. doi: 10.1038/s41598-025-23081-0. Sci Rep. 2025. PMID: 41219277 Free PMC article.
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.
Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T; MetabERN collaboration group on palliative care. Lee A, et al. Among authors: scarpa m. J Inherit Metab Dis. 2025 Nov;48(6):e70095. doi: 10.1002/jimd.70095. J Inherit Metab Dis. 2025. PMID: 41137497 Free PMC article.
Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient.
Cirnigliaro L, Randazzo M, Dardis A, Stroppiano M, Velardita M, Peruzzo P, Scarpa M, Rizzo R, Barone R. Cirnigliaro L, et al. Among authors: scarpa m. Eur Child Adolesc Psychiatry. 2025 Nov;34(11):3691-3694. doi: 10.1007/s00787-025-02764-z. Epub 2025 Jun 16. Eur Child Adolesc Psychiatry. 2025. PMID: 40522455 Free PMC article. No abstract available.
165 results