Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia
0.010 GeneticVariation disease BEFREE We describe (i) an efficient recombinant approach to produce PAL enzyme, (ii) testing of PAL in orthologous N-ethyl-N'-nitrosourea (ENU) mutant mouse strains with HPA, and (iii) proofs of principle (PAL reduces HPA)-both pharmacologic (with a clear dose-response effect vs. HPA after PAL injection) and physiologic (protected enteral PAL is significantly effective vs. HPA). 10051643 1999