Crowther, Lisa M

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency. [electronic resource] - Journal of inherited metabolic disease 07 2019 - 620-628 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1573-2665

10.1002/jimd.12076 doi


2-Aminoadipic Acid--analogs & derivatives
Aldehyde Dehydrogenase--deficiency
Epilepsy--genetics
Humans
Lysine--analogs & derivatives
Metabolic Networks and Pathways
Pipecolic Acids--metabolism
Vitamin B 6--therapeutic use