Browsing by Keyword "D-bifunctional protein deficiency"
Now showing items 1-1 of 1
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency (BioMed Central, 2014)Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. ...