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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Detalles Bibliográficos
Autor principal: Ambrus, Attila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Original Paper
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

Internet

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

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