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

por 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
Publicado 2012

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

por van de Stadt, Stephanie I. W., Mooyer, Petra A. W., Dijkstra, Inge M. E., Dekker, Conny J. M., Vats, Divya, Vera, Moin, Ruzhnikov, Maura R. Z., van Haren, Keith, Tang, Nelson, Koop, Klaas, Willemsen, Michel A., Hui, Joannie, Vaz, Frédéric M., Ebberink, Merel S., Engelen, Marc, Kemp, Stephan, Ferdinandusse, Sacha
Publicado 2021