Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome
0.010 Biomarker disease BEFREE Using genetic, biochemical and clinical characteristics, all potentially available in the newborn period, an algorithm was developed to predict the MPS I phenotype, allowing timely initiation of the optimal treatment strategy after introduction of NBS. 23837464 2013