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Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Wortmann SB, et al. Among authors: van hove jlk, van schaftingen e, van spronsen fj. Blood. 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465. Blood. 2020. PMID: 32294159 Free PMC article.
Safe and unsafe duration of fasting for children with MCAD deficiency.
Derks TG, van Spronsen FJ, Rake JP, van der Hilst CS, Span MM, Smit GP. Derks TG, et al. Among authors: van spronsen fj, van der hilst cs. Eur J Pediatr. 2007 Jan;166(1):5-11. doi: 10.1007/s00431-006-0186-0. Epub 2006 Jun 21. Eur J Pediatr. 2007. PMID: 16788829
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Mohamed M, et al. Among authors: van spronsen fj. Biochim Biophys Acta. 2011 Jun;1812(6):691-8. doi: 10.1016/j.bbadis.2011.02.011. Epub 2011 Mar 17. Biochim Biophys Acta. 2011. PMID: 21362473 Free article.
Single amino acid supplementation in aminoacidopathies: a systematic review.
van Vliet D, Derks TG, van Rijn M, de Groot MJ, MacDonald A, Heiner-Fokkema MR, van Spronsen FJ. van Vliet D, et al. Among authors: van rijn m, van spronsen fj. Orphanet J Rare Dis. 2014 Jan 13;9:7. doi: 10.1186/1750-1172-9-7. Orphanet J Rare Dis. 2014. PMID: 24422943 Free PMC article. Review.
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
van Vliet D, van Dam E, van Rijn M, Derks TG, Venema-Liefaard G, Hitzert MM, Lunsing RJ, Heiner-Fokkema MR, van Spronsen FJ. van Vliet D, et al. Among authors: van rijn m, van spronsen fj, van dam e. JIMD Rep. 2015;18:117-24. doi: 10.1007/8904_2014_358. Epub 2014 Sep 26. JIMD Rep. 2015. PMID: 25256450 Free PMC article.
BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.
van Vliet D, Anjema K, Jahja R, de Groot MJ, Liemburg GB, Heiner-Fokkema MR, van der Zee EA, Derks TG, Kema IP, van Spronsen FJ. van Vliet D, et al. Among authors: van der zee ea, van spronsen fj. Mol Genet Metab. 2015 Jan;114(1):29-33. doi: 10.1016/j.ymgme.2014.11.009. Epub 2014 Nov 15. Mol Genet Metab. 2015. PMID: 25466353
249 results