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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 1
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Page 1
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V, Pijnappel PWWM, Burlina AP, In 't Groen SLM, Gueraldi D, Cazzorla C, Maines E, Polo G, Salviati L, Di Salvo G, Burlina AB. Gragnaniello V, et al. Among authors: cazzorla c. Mol Genet Metab Rep. 2022 Oct 22;33:100929. doi: 10.1016/j.ymgmr.2022.100929. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36310651 Free PMC article.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: cazzorla c. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Bone disease in early detected Gaucher Type I disease: A case report.
Gragnaniello V, Burlina AP, Manara R, Cazzorla C, Rubert L, Gueraldi D, Toniolli E, Quaia E, Burlina AB. Gragnaniello V, et al. Among authors: cazzorla c. JIMD Rep. 2022 Jun 26;63(5):414-419. doi: 10.1002/jmd2.12314. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101816 Free PMC article.
Living with phenylketonuria in adulthood: The PKU ATTITUDE study.
Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M, Polo G, Burlina A. Cazzorla C, et al. Mol Genet Metab Rep. 2018 Jul 11;16:39-45. doi: 10.1016/j.ymgmr.2018.06.007. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 30069431 Free PMC article.
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.
Bösch F, Landolt MA, Baumgartner MR, Zeltner N, Kölker S, Gleich F, Burlina A, Cazzorla C, Packman W, V D Schwartz I, Vieira Neto E, Ribeiro MG, Martinelli D, Olivieri G, Huemer M. Bösch F, et al. Among authors: cazzorla c. J Inherit Metab Dis. 2021 Jan;44(1):215-225. doi: 10.1002/jimd.12301. Epub 2020 Sep 22. J Inherit Metab Dis. 2021. PMID: 32785952
25 results