FØLLING, Ivar Asbjørn
1 entries
|
Utskillelse av fenylpyrodruesyre i urinen som stoffskifteanomali i forbindelse med imbecilletet.Nord. med. T., 8, 1054-59, 1934.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 translation in Boyer (ed.), Papers on human genetics, Englewood Cliffs, N.J., Prentice-Hall, 1963. Subjects: GENETICS / HEREDITY › GENETIC DISORDERS › Phenylketonuria (PKU), GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Inherited Metabolic Disorders, NEUROLOGY › Neurodevelopmental Disorders › Mental Retardation |