Skip to main content
Garrison-Morton-Norman History of Medicine

SEEGMILLER, Jarvis Edwin (1920 – 2006)

1920 – 2006

1 entries in the GMN corpus.

Sort by YearSort by Title

1967 CE

#14198

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

SEEGMILLER, Jarvis Edwin (1920 – 2006)
ROSENBLOOM, F. M.
ROSENBLOOM, F. M.
KELLY, W. N.
KELLY, W. N.

Jay Seegmiller and his colleagues at NIH discovered that the rare genetic disease, Lesch–Nyhan syndrome, was due to a profound deficiency of an enzyme known as hypoxanthine guanine phosphoribosyltransferase, or …