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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 3
2004 5
2005 4
2006 7
2007 3
2008 5
2009 4
2010 4
2011 9
2012 11
2013 11
2014 8
2015 19
2016 13
2017 13
2018 16
2019 11
2020 17
2021 14
2022 22
2023 19
2024 7

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195 results

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Page 1
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
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.
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: burlina 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.
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria.
Parolisi S, Montanari C, Borghi E, Cazzorla C, Zuvadelli J, Tosi M, Barone R, Bensi G, Bonfanti C, Dionisi Vici C, Biasucci G, Burlina A, Carbone MT, Verduci E; SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism. Parolisi S, et al. Among authors: burlina a. Pharmacol Res. 2023 Nov;197:106952. doi: 10.1016/j.phrs.2023.106952. Epub 2023 Oct 5. Pharmacol Res. 2023. PMID: 37804926 Free article. Review.
195 results