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From common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1
Hypoketotic hypoglycaemia is a biochemical hallmark of glycogen storage disease type 1 (GSD1). This is due to inhibition of carnitine-palmitoyl transferase 1 by malonyl-CoA. This inhibits the influx of long-chain fatty acids into the mitochondrial matrix for fatty acid oxidation. This leads to reduc...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508021/ https://www.ncbi.nlm.nih.gov/pubmed/37723434 http://dx.doi.org/10.1186/s12263-023-00733-2 |