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591 results

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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
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25. Mol Genet Metab. 2019. PMID: 30827756
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.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 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
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27. J Inherit Metab Dis. 2019. PMID: 30734935 Free article.
Management of phenylketonuria in Europe: survey results from 19 countries.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826
591 results