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Seroprevalence of SARS-CoV-2 antibodies in Italy in newborn dried blood spots.
Galla L, Cosma C, Bertan M, Altinier S, Zaninotto M, Basso D, Burlina A, Padoan A, Plebani M. Galla L, et al. Among authors: burlina a. Clin Chem Lab Med. 2022 Oct 26;61(2):311-315. doi: 10.1515/cclm-2022-0948. Print 2023 Jan 27. Clin Chem Lab Med. 2022. PMID: 36282964 Free article.
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.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R. Kubaski F, et al. Among authors: burlina a. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107654. doi: 10.1016/j.ymgme.2023.107654. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37507255
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. Among authors: burlina a. J Inherit Metab Dis. 2024 Mar 3. doi: 10.1002/jimd.12724. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38433424
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 ab, 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.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Grünert SC, Gautschi M, Baker J, Boyer M, Burlina A, Casswall T, Corpeleijn W, Çıki K, Cotter M, Crushell E, Derks TGJ, Haas D, Kilavuz S, Kingma SDK, Korman SH, Kozek A, de Laet C, Mundy H, Nassogne MC, Quintero V, Rossi A, Spenger J, Spiegel R, Stephenne X, Stojkov D, Tal G, Veiga-da Cunha M, Wortmann SB. Grünert SC, et al. Among authors: burlina a. Mol Genet Metab. 2024 Apr 27;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Online ahead of print. Mol Genet Metab. 2024. PMID: 38733639
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: burlina a. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
580 results