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phenylketonuria (Q194041)

From Wikidata
amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
  • PKU
  • phenylalaninemia
  • Følling's disease
  • phenylketonurias
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    English
    phenylketonuria
    amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
    • PKU
    • phenylalaninemia
    • Følling's disease
    • phenylketonurias

    Statements

    Phenylketonuria testing.jpg
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    blood from a two‐week‐old being collected for phenylketonuria screening (English)
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    PKU (English)
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    PKU (German)
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    ΦΚΟ (Greek)
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    Phenylketonuria
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    Identifiers

    fenylketonurie
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    5C50.0
    Phenylketonuria
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    Phenylketonuria
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