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Saccharopinuria
- ... Lysine alpha-ketoglutarate reductase deficiency Saccharopine dehydrogenase deficiency Saccharopinuria Genetic Testing Registry: Hyperlysinemia Genetic Testing Registry: Saccharopinuria ...
- ... PubMed Markovitz PJ, Chuang DT, Cox RP. Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde ...