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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: lubout cma. N Engl J Med. 2024 Feb 15;390(7):623-629. doi: 10.1056/NEJMoa2313398. N Engl J Med. 2024. PMID: 38354141
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. 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: lubout cma. 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.
Bone mineral density is within normal range in most adult phenylketonuria patients.
Lubout CMA, Arrieta Blanco F, Bartosiewicz K, Feillet F, Gizewska M, Hollak C, van der Lee JH, Maillot F, Stepien KM, Wagenmakers MAEM, Welsink-Karssies MM, van Spronsen FJ, Bosch AM. Lubout CMA, et al. J Inherit Metab Dis. 2020 Mar;43(2):251-258. doi: 10.1002/jimd.12177. Epub 2020 Feb 6. J Inherit Metab Dis. 2020. PMID: 31587319 Free PMC article.
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M; CONNECT MetabERN Collaboration Group; Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ. Rossi A, et al. Among authors: lubout cma. J Inherit Metab Dis. 2021 Sep;44(5):1124-1135. doi: 10.1002/jimd.12386. Epub 2021 May 4. J Inherit Metab Dis. 2021. PMID: 33844307 Free PMC article.
23 results