Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis
0.010 Biomarker disease BEFREE A 53-yr-old woman was diagnosed with HPP on the basis of repeatedly low serum ALP (6-8 IU/liter; normal, 30-120 IU/liter), high urine phosphoethanolamine (PEA) and serum pyridoxal 5'-phosphate (PLP) concentrations, and pseudofractures on the lateral aspect of both proximal femurs. 20089612 2010