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This review gives some insight into the descriptions of phenylketonuria in fiction literature (e.g. T. Storm's The rider on the white horse, P.S. Buck's The good earth) and biographies (e.g. P.S. Buck's The child who never grew, C.J. Stevens's The miracle of Bryan Pearce). The Storm's novel was published in German in the year 1888, in which I.A. Følling, the discoverer of phenylketonuria, was born...
Phenylketonuria is one of the best-known examples of inherited metabolic diseases. It is widely considered as a triumph of western medicine. Untreated phenylketonuria manifests as mental retardation, epilepsy, light complexion, eczema, and a „mousy” odour. This review gives some insight into history of the use of the disease's name, which was probably coined by the biochemist J.H. Quastel and focuses...
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