Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria
| Autor: | Cederbaum, Stephen D., Shaw, Kenneth N.F., Dancis, Joseph, Hutzler, Joel, Blaskovics, Joan C. |
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| Zdroj: | In The Journal of Pediatrics 1979 95(2):220-227 |
| Databáze: | ScienceDirect |
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