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Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology.
Dancis J, Hutzler J, Cox RP. Dancis J, et al. Am J Hum Genet. 1979 May;31(3):290-9. Am J Hum Genet. 1979. PMID: 463877 Free PMC article.
The relation of the two genetic entities involving lysine degradation, familial hyperlysinemia and saccharopinuria, is discussed. It is suggested that familial hyperlysinemia, type I, be applied to patients with major defects in lysine-ketoglutarate reductase and saccharop …
The relation of the two genetic entities involving lysine degradation, familial hyperlysinemia and saccharopinuria, is discussed. It …
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria.
Cederbaum SD, Shaw KN, Dancis J, Hutzler J, Blaskovics JC. Cederbaum SD, et al. J Pediatr. 1979 Aug;95(2):234-8. doi: 10.1016/s0022-3476(79)80657-5. J Pediatr. 1979. PMID: 571908
Re-examination of the urine of previously studied cases of this double enzyme deficiency suggests that saccharopinuria of variable degree is the rule and not the exception....
Re-examination of the urine of previously studied cases of this double enzyme deficiency suggests that saccharopinuria of variable de …