Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

Autor: McMillan, Hugh J., Worthylake, Thea, Schwartzentruber, Jeremy, Gottlieb, Chloe C., Lawrence, Sarah E., MacKenzie, Alex, Beaulieu, Chandree L., W. Mooyer, Petra A., A. Wanders, Ronald J., Majewski, Jacek, Bulman, Dennis E., Geraghty, Michael T., Ferdinandusse, Sacha, Boycott, Kym M.

Publikováno v: Orphanet Journal of Rare Diseases; 2012, Vol. 7 Issue 1, p90-98, 9p, 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 2 Charts