D-bifunctional protein deficiency, a novel mutation

Published

Journal Article

Deficiency of D-bifunctional protein causes a severe, Zellweger-like phenotype. Different mutations were found in humans causing the total or partial loss of this enzyme's function. We report a family with severe Zellweger-like syndrome with a typical presentation of neonatal hypotonia and seizures, biochemical evidence of peroxisomal disease, and a novel mutation C.1052T>G (V351G) in a homozygous state. © 2008 IOS Press. All rights reserved.

Duke Authors

Cited Authors

  • Dib, RE; Karam, P; Mikati, MA; Steinberg, S; Habbal, MZ

Published Date

  • December 1, 2008

Published In

Volume / Issue

  • 6 / 4

Start / End Page

  • 357 - 360

Electronic International Standard Serial Number (EISSN)

  • 1305-0613

International Standard Serial Number (ISSN)

  • 1304-2580

Citation Source

  • Scopus