Browsing Harvard Medical School by Keyword "D-bifunctional protein deficiency"
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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. ...