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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G. Schwantje M, et al. J Inherit Metab Dis. 2022 Jul;45(4):804-818. doi: 10.1002/jimd.12502. Epub 2022 Apr 19. J Inherit Metab Dis. 2022. PMID: 35383965 Free PMC article.
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, Ferdinandusse S, Denis S, Fuchs SA, Schwantje M, Geurtzen R, van Wegberg AMJ, Huigen MCDG, Kluijtmans LAJ, Wanders RJA, Derks TGJ, de Boer L, Houtkooper RH, de Vries MC, van Karnebeek CDM. Veenvliet ARJ, et al. Among authors: schwantje m. Mol Genet Metab Rep. 2022 May 4;31:100873. doi: 10.1016/j.ymgmr.2022.100873. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782614 Free PMC article.