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

Year Number of Results
2010 2
2012 1
2013 1
2014 1
2016 2
2017 1
2018 2
2019 3
2020 4
2021 4
2022 5
2023 9
2024 4

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Page 1
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights.
Scala I, Brodosi L, Gueraldi D, Manti F, Rovelli V, Zuvadelli J, Agnelli G, Cazzorla C, Nardecchia F, Giammanco A, Biasucci G. Scala I, et al. Among authors: cazzorla c. Mol Genet Metab. 2024 May;142(1):108151. doi: 10.1016/j.ymgme.2024.108151. Epub 2024 Feb 2. Mol Genet Metab. 2024. PMID: 38522180 Free article.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A. Gragnaniello V, et al. Among authors: cazzorla c. Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. Orphanet J Rare Dis. 2023. PMID: 37974207 Free PMC article.
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria.
Parolisi S, Montanari C, Borghi E, Cazzorla C, Zuvadelli J, Tosi M, Barone R, Bensi G, Bonfanti C, Dionisi Vici C, Biasucci G, Burlina A, Carbone MT, Verduci E; SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism. Parolisi S, et al. Among authors: cazzorla c. Pharmacol Res. 2023 Nov;197:106952. doi: 10.1016/j.phrs.2023.106952. Epub 2023 Oct 5. Pharmacol Res. 2023. PMID: 37804926 Free article. Review.
Health-related quality of life in a european sample of adults with early-treated classical PKU.
Maissen-Abgottspon S, Muri R, Hochuli M, Reismann P, Barta AG, Alptekin IM, Hermida-Ameijeiras Á, Burlina AP, Burlina AB, Cazzorla C, Carretta J, Trepp R, Everts R. Maissen-Abgottspon S, et al. Among authors: cazzorla c. Orphanet J Rare Dis. 2023 Sep 22;18(1):300. doi: 10.1186/s13023-023-02917-w. Orphanet J Rare Dis. 2023. PMID: 37740225 Free PMC article.
Newborn Screening for Fabry Disease: Current Status of Knowledge.
Gragnaniello V, Burlina AP, Commone A, Gueraldi D, Puma A, Porcù E, Stornaiuolo M, Cazzorla C, Burlina AB. Gragnaniello V, et al. Among authors: cazzorla c. Int J Neonatal Screen. 2023 Jun 5;9(2):31. doi: 10.3390/ijns9020031. Int J Neonatal Screen. 2023. PMID: 37367212 Free PMC article. Review.
36 results