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COG5-CDG: expanding the clinical spectrum.
Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. Rymen D, et al. Among authors: sturiale l. Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Orphanet J Rare Dis. 2012. PMID: 23228021 Free PMC article.
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
Quintana E, Sturiale L, Montero R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch R, Briones P. Quintana E, et al. Among authors: sturiale l. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8. doi: 10.1007/s10545-009-1219-4. Epub 2009 Sep 20. J Inherit Metab Dis. 2009. PMID: 19768653
Biosynthetic oligosaccharide libraries for identification of protein-binding heparan sulfate motifs. Exploring the structural diversity by screening for fibroblast growth factor (FGF)1 and FGF2 binding.
Jemth P, Kreuger J, Kusche-Gullberg M, Sturiale L, Giménez-Gallego G, Lindahl U. Jemth P, et al. Among authors: sturiale l. J Biol Chem. 2002 Aug 23;277(34):30567-73. doi: 10.1074/jbc.M203404200. Epub 2002 Jun 10. J Biol Chem. 2002. PMID: 12058038 Free article.
SLC35A2-CDG: Novel variant and review.
Quelhas D, Correia J, Jaeken J, Azevedo L, Lopes-Marques M, Bandeira A, Keldermans L, Matthijs G, Sturiale L, Martins E. Quelhas D, et al. Among authors: sturiale l. Mol Genet Metab Rep. 2021 Jan 30;26:100717. doi: 10.1016/j.ymgmr.2021.100717. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552911 Free PMC article.
108 results