Disorders of Ketogenesis and Ketolysis
Author:
Publisher
Springer Berlin Heidelberg
Link
https://link.springer.com/content/pdf/10.1007/978-3-662-63123-2_13
Reference36 articles.
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3. Lee T, Takami Y, Yamada K et al (2019) A Japanese case of mitochondrial 3- hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycaemia. JIMD Rep 48:19–25
4. Pitt JJ, Peters H, Boneh A et al (2015) Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. J Inherit Metab Dis 38:459–466
5. Grünert SC, Schlatter SM, Schmitt RN et al (2017) 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: clinical presentation and outcome in a series of 37 patients. Mol Genet Metab 121:206–215
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