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

Year Number of Results
2002 2
2003 1
2006 1
2007 4
2008 4
2009 1
2010 1
2011 1
2014 1
2015 4
2017 2
2018 1
2019 4
2020 5
2021 1
2022 6
2023 5
2024 1

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41 results

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Page 1
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Maione M, Gentile J, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Parini R, Lupica A, Scarpa M. Toscano A, et al. Among authors: fischetto r. Orphanet J Rare Dis. 2023 Oct 27;18(1):338. doi: 10.1186/s13023-023-02919-8. Orphanet J Rare Dis. 2023. PMID: 37891668 Free PMC article.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: fischetto r. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
Agazzi C, Magliozzi M, Iacoviello O, Palladino S, Delvecchio M, Masciopinto M, Galati A, Novelli A, Causio FA, Zampino G, Ruggiero C, Fischetto R. Agazzi C, et al. Among authors: fischetto r. Mol Syndromol. 2023 Apr;14(2):158-163. doi: 10.1159/000527424. Epub 2022 Dec 23. Mol Syndromol. 2023. PMID: 37064340 Free PMC article.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: fischetto r. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS).
Spataro F, Viggiani F, Macchia DG, Rollo V, Tummolo A, Suppressa P, Sabba' C, Rossi MP, Giliberti L, Satriano F, Nettis E, Di Bona D, Caiaffa MF, Fischetto R, Macchia L. Spataro F, et al. Among authors: fischetto r. Orphanet J Rare Dis. 2022 Nov 3;17(1):402. doi: 10.1186/s13023-022-02556-7. Orphanet J Rare Dis. 2022. PMID: 36329518 Free PMC article.
Body Composition in Adolescent PKU Patients: Beyond Fat Mass.
Tummolo A, Carella R, Paterno G, Bartolomeo N, Giotta M, Dicintio A, De Giovanni D, Fischetto R. Tummolo A, et al. Among authors: fischetto r. Children (Basel). 2022 Sep 4;9(9):1353. doi: 10.3390/children9091353. Children (Basel). 2022. PMID: 36138662 Free PMC article.
Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.
Galati A, Muciaccia R, Marucci A, Di Paola R, Menzaghi C, Ortolani F, Rutigliano A, Rotondo A, Fischetto R, Piccinno E, Delvecchio M. Galati A, et al. Among authors: fischetto r. Int J Environ Res Public Health. 2022 Sep 3;19(17):11031. doi: 10.3390/ijerph191711031. Int J Environ Res Public Health. 2022. PMID: 36078750 Free PMC article.
Evaluation of Antimicrobial Resistance in Salmonella Strains Isolated from Food, Animal and Human Samples between 2017 and 2021 in Southern Italy.
Alessiani A, Goffredo E, Mancini M, Occhiochiuso G, Faleo S, Didonna A, Fischetto R, Suglia F, De Vito D, Stallone A, D'Attoli L, Donatiello A. Alessiani A, et al. Among authors: fischetto r. Microorganisms. 2022 Apr 13;10(4):812. doi: 10.3390/microorganisms10040812. Microorganisms. 2022. PMID: 35456862 Free PMC article.
41 results