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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. Among authors: burlina ap. 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
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: burlina ap. 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.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E, Feldt-Rasmussen U, Germain DP, Guffon N, Jovanovic A, Kantola I, Karaa A, Martins AM, Tøndel C, Wilcox WR, Yoo HW, Burlina AP, Mauer M. Hopkin RJ, et al. Among authors: burlina ap. Mol Genet Metab. 2023 Feb;138(2):106967. doi: 10.1016/j.ymgme.2022.106967. Epub 2022 Nov 30. Mol Genet Metab. 2023. PMID: 36709533 Free article.
Multiple Sclerosis Progression and Relapse Activity in Children.
Iaffaldano P, Portaccio E, Lucisano G, Simone M, Manni A, Guerra T, Paolicelli D, Betti M, De Meo E, Pastò L, Razzolini L, Rocca MA, Ferrè L, Brescia Morra V, Patti F, Zaffaroni M, Gasperini C, De Luca G, Ferraro D, Granella F, Pozzilli C, Romano S, Gallo P, Bergamaschi R, Coniglio MG, Lus G, Vianello M, Banfi P, Lugaresi A, Totaro R, Spitaleri D, Cocco E, Di Palma F, Maimone D, Valentino P, Torri Clerici V, Protti A, Maniscalco GT, Salemi G, Pesci I, Aguglia U, Lepore V, Filippi M, Trojano M, Amato MP; Italian Multiple Sclerosis Register. Iaffaldano P, et al. JAMA Neurol. 2024 Jan 1;81(1):50-58. doi: 10.1001/jamaneurol.2023.4455. JAMA Neurol. 2024. PMID: 38010712
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: burlina ap. 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.
Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Manti F, Caviglia S, Cazzorla C, Dicintio A, Pilotto A, Burlina AP. Manti F, et al. Among authors: burlina ap. Orphanet J Rare Dis. 2023 Mar 3;18(1):44. doi: 10.1186/s13023-023-02644-2. Orphanet J Rare Dis. 2023. PMID: 36869340 Free PMC article. No abstract available.
76 results