Specific combination of compound heterozygous mutations in 17β-hydroxysteroid 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, Mooyer Petra A W, Wanders Ronald J A, Majewski Jacek, Bulman Dennis E, Geraghty Michael T, Ferdinandusse Sacha, Boycott Kym M

Publikováno v: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 90 (2012)

Abstract Background D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients w

Externí odkaz: https://doaj.org/article/35d3ec0c604b410e8f3bdf0a9f806ff4

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