首页> Journal of inherited metabolic disease> New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

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第一作者： Lisa M,Crowther

第一单位： Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.;CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.;Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.

作者： Lisa M,Crowther ^[1] ; Déborah,Mathis ^[2] ; Martin,Poms ^[1] ; Barbara,Plecko ^[3]

作者单位： Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.;CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.;Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland. ^[1] CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.;Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.;Department of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland. ^[2] Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.;CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.;Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.;Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria. ^[3]

关键词 antiquitin lysine catabolism pipecolic acid saccharopine α-Aminoadipic semialdehyde