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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: puma a. 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
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: puma a. 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.
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: puma a. 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.
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.
Peillet C, Adams D, Attarian S, Bouhour F, Cauquil C, Cassereau J, Chanson JB, Cintas P, Creange A, Delmont E, Fargeot G, Genestet S, Gueguen A, Kaminsky AL, Kuntzer T, Labeyrie C, Michaud M, Pereon Y, Puma A, Viala K, Chretien P, Adam C, Echaniz-Laguna A. Peillet C, et al. Among authors: puma a. Eur J Neurol. 2022 Dec;29(12):3547-3555. doi: 10.1111/ene.15523. Epub 2022 Aug 29. Eur J Neurol. 2022. PMID: 35969369
76 results