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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
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.
An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry.
van Vlies N, Ruiter JP, Doolaard M, Wanders RJ, Vaz FM.
van Vlies N, et al. Among authors: doolaard m.
Mol Genet Metab. 2007 Jan;90(1):24-9. doi: 10.1016/j.ymgme.2006.07.006. Epub 2006 Aug 28.
Mol Genet Metab. 2007.
PMID: 16935015
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Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.
Chegary M, Te Brinke H, Doolaard M, Ijlst L, Wijburg FA, Wanders RJ, Houten SM.
Chegary M, et al. Among authors: doolaard m.
Mol Genet Metab. 2008 Apr;93(4):403-10. doi: 10.1016/j.ymgme.2007.11.001. Epub 2008 Feb 20.
Mol Genet Metab. 2008.
PMID: 18077198
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