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High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
Eskandari SK, Revenich EGM, Pot DJ, de Boer F, Bierings M, van Spronsen FJ, van Hasselt PM, Lindemans CA, Lubout CMA. Eskandari SK, et al. Among authors: van spronsen fj. N Engl J Med. 2024 Feb 15;390(7):623-629. doi: 10.1056/NEJMoa2313398. N Engl J Med. 2024. PMID: 38354141
Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?
Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ. Koelink CJ, et al. Among authors: van den heuvel eibrink mm, van hasselt p, van der ploeg a, van spronsen fj. Mol Genet Metab. 2006 Dec;89(4):310-5. doi: 10.1016/j.ymgme.2006.07.009. Epub 2006 Sep 27. Mol Genet Metab. 2006. PMID: 17008115
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.
Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM. Bendadi F, et al. Among authors: van hasselt pm, van spronsen fj. J Pediatr. 2014 Feb;164(2):398-401. doi: 10.1016/j.jpeds.2013.10.001. Epub 2013 Nov 14. J Pediatr. 2014. PMID: 24238861 Free article.
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.
Lubout CMA, Derks TGJ, Meiners L, Erwich JJ, Bergman KA, Lunsing RJ, Schwarz G, Veldman A, van Spronsen FJ. Lubout CMA, et al. Among authors: van spronsen fj. Eur J Paediatr Neurol. 2018 May;22(3):536-540. doi: 10.1016/j.ejpn.2017.11.006. Epub 2017 Nov 28. Eur J Paediatr Neurol. 2018. PMID: 29274890
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Hoogeveen IJ, Peeks F, de Boer F, Lubout CMA, de Koning TJ, Te Boekhorst S, Zandvoort RJ, Burghard R, van Spronsen FJ, Derks TGJ. Hoogeveen IJ, et al. Among authors: van spronsen fj. J Inherit Metab Dis. 2018 Nov;41(6):929-936. doi: 10.1007/s10545-018-0167-2. Epub 2018 Mar 29. J Inherit Metab Dis. 2018. PMID: 29600495 Free PMC article.
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA. de Rooy RLP, et al. Among authors: van hasselt pm, van spronsen fj. Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30. Eur J Paediatr Neurol. 2018. PMID: 29661537
234 results