Multiple enzyme defects in familial hyperlysinemia

J. Dancis, J. Hutzler, N. C. Woody, R. P. Cox

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Analysis of liver obtained at autopsy from a patient with familial hyperlysinemia revealed a severe deficiency in lysine ketoglutarate reductase, saccharopine dehydrogenase, and saccharopine oxidoreductase. The deficiencies were confirmed in skin fibroblasts from two siblings with the disease and a third patient from an unrelated family.

Original languageEnglish (US)
Pages (from-to)686-691
Number of pages6
JournalPediatric Research
Volume10
Issue number7
StatePublished - 1976

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Hyperlysinemias
Saccharopine Dehydrogenases
Enzymes
Siblings
Autopsy
Oxidoreductases
Fibroblasts
Skin
Liver

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Dancis, J., Hutzler, J., Woody, N. C., & Cox, R. P. (1976). Multiple enzyme defects in familial hyperlysinemia. Pediatric Research, 10(7), 686-691.

Multiple enzyme defects in familial hyperlysinemia. / Dancis, J.; Hutzler, J.; Woody, N. C.; Cox, R. P.

In: Pediatric Research, Vol. 10, No. 7, 1976, p. 686-691.

Research output: Contribution to journalArticle

Dancis, J, Hutzler, J, Woody, NC & Cox, RP 1976, 'Multiple enzyme defects in familial hyperlysinemia', Pediatric Research, vol. 10, no. 7, pp. 686-691.
Dancis J, Hutzler J, Woody NC, Cox RP. Multiple enzyme defects in familial hyperlysinemia. Pediatric Research. 1976;10(7):686-691.
Dancis, J. ; Hutzler, J. ; Woody, N. C. ; Cox, R. P. / Multiple enzyme defects in familial hyperlysinemia. In: Pediatric Research. 1976 ; Vol. 10, No. 7. pp. 686-691.
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