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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: paci s. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: paci s. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154
Novel mutations in two unrelated Italian patients with SSADH deficiency.
Balzarini M, Rovelli V, Paci S, Rigoldi M, Sanna G, Pillai S, Asunis M, Parini R, Ciminelli BM, Malaspina P. Balzarini M, et al. Among authors: paci s. Metab Brain Dis. 2019 Oct;34(5):1515-1518. doi: 10.1007/s11011-019-00453-w. Epub 2019 Jul 2. Metab Brain Dis. 2019. PMID: 31267348
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
Burlina A, Bettocchi I, Biasucci G, Bordugo A, Gasperini S, La Spina L, Maines E, Meli C, Menni F, Paci S, Procopio E, Rossi A, Rubert L, Spada M, Tubili F, Tummolo A. Burlina A, et al. Among authors: paci s. Eur Rev Med Pharmacol Sci. 2022 Jul;26(14):5136-5143. doi: 10.26355/eurrev_202207_29302. Eur Rev Med Pharmacol Sci. 2022. PMID: 35916811 Free article.
58 results