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Garrison-Morton-Norman History of Medicine

ROSENBLOOM, F. M.

1 entries in the GMN corpus.

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1967

#14198

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

SEEGMILLER, Jarvis Edwin (1920 – 2006) ROSENBLOOM, F. M. 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 HGPRT.…