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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.
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
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.
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures.
Venema A, Peeks F, de Bruijn-van der Veen M, de Boer F, Fokkert-Wilts MJ, Lubout CMA, Huskens B, Dumont E, Mulkens S, Derks TGJ. Venema A, et al. Among authors: lubout cma. JIMD Rep. 2021 Oct 10;63(1):29-40. doi: 10.1002/jmd2.12253. eCollection 2022 Jan. JIMD Rep. 2021. PMID: 35028269 Free PMC article.
24 results