Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
3-Hydroxy-3-methylglutaryl-coenzyme A lyase (HMGCL, HMGCL ) deficiency is a rare inborn error of ketogenesis. Even if the ketogenic enzyme is fully disrupted, an elevated signal for the ketone body acetoacetic acid is a frequent observation in the analysis of urinary organic acids, at least if deriv...
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| Principais autores: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2018-09-01
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| Serier: | Journal of Inborn Errors of Metabolism and Screening |
| Online adgang: | https://doi.org/10.1177/2326409818797361 |
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