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Folder Phenylketonuria and other hyperphenylalaninemias

Disease name:  Phenylketonuria

ICD 10:  E70.0, E70.1

OMI: 260600, 260630

GARD 7383

Synonyms: Phenylalanine hydroxylase deficiency, BH4 deficiency (dihydropterine reductase deficiency), PKU, Fǿlling disease, Phenylpyruvic oligophrenia


   
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