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2019 1
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2022 8
2023 8
2024 1

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Page 1
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. 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.
Newborn screening of mucopolysaccharidosis type I.
Burlina AB, Gragnaniello V. Burlina AB, et al. Among authors: gragnaniello v. Crit Rev Clin Lab Sci. 2022 Jun;59(4):257-277. doi: 10.1080/10408363.2021.2021846. Epub 2022 Jan 17. Crit Rev Clin Lab Sci. 2022. PMID: 35037566
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation.
Maines E, Moretti M, Vitturi N, Gugelmo G, Fasan I, Lenzini L, Piccoli G, Gragnaniello V, Maiorana A, Soffiati M, Burlina A, Franceschi R. Maines E, et al. Among authors: gragnaniello v. Metabolites. 2023 Apr 16;13(4):563. doi: 10.3390/metabo13040563. Metabolites. 2023. PMID: 37110221 Free PMC article. Review.
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. 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.
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Massa P, Puma A, Cananzi M, Salviati L, Burlina AP, Burlina AB. Gragnaniello V, et al. Am J Med Genet A. 2023 Jul;191(7):1917-1922. doi: 10.1002/ajmg.a.63196. Epub 2023 Apr 3. Am J Med Genet A. 2023. PMID: 37009750
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: gragnaniello v. 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. 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.
20 results