Associated Papers
D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.
Erdal AE et al.
Molecular Syndromology, 2026
On the molecular basis of D-bifunctional protein deficiency type III.
Mehtälä ML et al.
Plos One, 2013
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.
Grønborg S et al.
American Journal of Medical Genetics. Part A, 2010
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