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Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
J Inherit Metab Dis. 2020 Mar;43(2):216-222. doi: 10.1002/jimd.12175. Epub 2019 Nov 13.
J Inherit Metab Dis. 2020.
PMID: 31605543
Free PMC article.
Review.
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.
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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S.
Schwantje M, et al.
J Inherit Metab Dis. 2022 Jul;45(4):819-831. doi: 10.1002/jimd.12503. Epub 2022 May 5.
J Inherit Metab Dis. 2022.
PMID: 35403730
Free PMC article.
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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.
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Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Schwantje M, de Sain-van der Velden M, Jans J, van Gassen K, Dorrepaal C, Koop K, Visser G.
Schwantje M, et al.
JIMD Rep. 2019 May 28;48(1):11-14. doi: 10.1002/jmd2.12040. eCollection 2019 Jul.
JIMD Rep. 2019.
PMID: 31392107
Free PMC article.
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Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM.
Schwantje M, et al.
FASEB J. 2024 Feb 29;38(4):e23478. doi: 10.1096/fj.202302163R.
FASEB J. 2024.
PMID: 38372965
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Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.
Schwantje M, Grünert SC, Fuchs SA.
Schwantje M, et al.
Orphanet J Rare Dis. 2024 Jan 20;19(1):21. doi: 10.1186/s13023-024-03024-0.
Orphanet J Rare Dis. 2024.
PMID: 38245779
Free PMC article.
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