Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (<it>HSD17B4</it>) defines a new subtype of D-bifunctional protein deficiency

by McMillan Hugh J, Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C, Lawrence Sarah E, MacKenzie Alex, Beaulieu Chandree L, Mooyer Petra A W, Wanders Ronald J A, Majewski Jacek, Bulman Dennis E, Geraghty Michael T, Ferdinandusse Sacha, Boycott Kym M
Published 2012-11-01