dgn-np:NP243838.RAUvSHRpjf6Gu2zMsjuAYnnuCwhZCuhOtpl119MDEWAWM130_provenance {
  dgn-np:NP243838.RAUvSHRpjf6Gu2zMsjuAYnnuCwhZCuhOtpl119MDEWAWM130_assertion dcterms:description "[Blood phenylalanine greater than 1200 mumol/L usually indicates severe deficiency of phenylalanine hydroxylase and is often called `classical PKU.` Blood phenylalanine levels between 600 and 1200 mumol/L lead to `atypical PKU.` Cases where blood phenylalanine remains between 120 and 480 mumol/L on a normal diet are termed `benign hyperphenylalaninemia.` A deficiency of the cofactor tetrahydrobiopterin (BH4), which is required for phenylalanine hydroxylase activity, leads to hyperphenylalaninemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:1959225 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}