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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 Jun;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Epub 2024 Apr 27. Mol Genet Metab. 2024. PMID: 38733639
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
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.
Management of phenylketonuria in European PKU centres remains heterogeneous.
Ahring K, Bélanger-Quintana A, Burlina A, Giżewska M, Maillot F, Muntau A, Roscher A, MacDonald A. Ahring K, et al. Among authors: burlina a. Mol Genet Metab. 2024 Jan;141(1):108120. doi: 10.1016/j.ymgme.2023.108120. Epub 2023 Dec 23. Mol Genet Metab. 2024. PMID: 38159545
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 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
580 results