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phenylketonuria [1 record]

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Record 1 2002-03-21

English

Subject field(s)
  • Endocrine System and Metabolism
CONT

Phenylketonuria was first described as a clinical entity in 1934 by Asjborn Fölling, who surmised that the disorder was autosomal recessive and an inborn error of metabolism. ... Phenylketonuria [is] a generic term for severe hyperphenylalaninemia (>1 mM), low phenylalanine tolerance (<500 mg per day), and high risk of mental retardation in the absence of treatment

French

Domaine(s)
  • Systèmes endocrinien et métabolique
CONT

La phénylcétonurie est une maladie génétique héréditaire transmise par les deux parents (porteurs sains) à leur enfant. Elle provient d'un trouble de la transformation de la phénylalanine en tyrosine.

Spanish

Campo(s) temático(s)
  • Sistemas endocrino y metabólico
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