Associated Papers
On the molecular basis of D-bifunctional protein deficiency type III.
Mehtälä ML et al.
Plos One, 2013
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
McMillan HJ et al.
Orphanet Journal of Rare Diseases, 2012
Select a paper to view details