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An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence
Dihydrolipoamide dehydrogenase (LADH, E3) deficiency is a rare (autosomal, recessive) genetic disorder generally presenting with an onset in the neonatal age and early death; the highest carrier rate has been found among Ashkenazi Jews. Acute clinical episodes usually involve severe metabolic decomp...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer US
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6776566/ https://www.ncbi.nlm.nih.gov/pubmed/30847858 http://dx.doi.org/10.1007/s11064-019-02766-9 |