1934 FØLLING, Ivar Asbjørn (1888 – 1973)

Utskillelse av fenylpyrodruesyre i urinen som stoffskifteanomali i forbindelse med imbecilletet.

Phenylketonuria (PKU) first described. This was the first hereditary metabolic disorder shown to be responsible for mental retardation. German translation in Hoppe-Seyl. Z. physiol. Chem., 1934, 227, 169-76. English t…

GMN 3924 · https://historyofmedicine.com/id/5067

2013 PAUL, Diane B.; BROSCO, Jeffrey P.

The PKU paradox: A short history of a genetic disease.

GMN 13532 · https://historyofmedicine.com/id/15809