Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

Annemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M J van Wegberg, Marleen C D G Huigen, Leo A J Kluijtmans, Ronald J A Wanders, Terry G J Derks, Lonneke de Boer, Riekelt H Houtkooper, Maaike C de Vries, Clara D M van Karnebeek

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Biochemistry, Genetics and Molecular Biology