D-bifunctional protein deficiency, a novel mutation
Publication
, Journal Article
Dib, RE; Karam, P; Mikati, MA; Steinberg, S; Habbal, MZ
Published in: Journal of Pediatric Neurology
January 1, 2008
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 Scholars
Published In
Journal of Pediatric Neurology
DOI
EISSN
1875-9041
ISSN
1304-2580
Publication Date
January 1, 2008
Volume
6
Issue
4
Start / End Page
357 / 360
Related Subject Headings
- Neurology & Neurosurgery
- 3213 Paediatrics
- 3209 Neurosciences
- 11 Medical and Health Sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Dib, R. E., Karam, P., Mikati, M. A., Steinberg, S., & Habbal, M. Z. (2008). D-bifunctional protein deficiency, a novel mutation. Journal of Pediatric Neurology, 6(4), 357–360. https://doi.org/10.1055/s-0035-1557474
Dib, R. E., P. Karam, M. A. Mikati, S. Steinberg, and M. Z. Habbal. “D-bifunctional protein deficiency, a novel mutation.” Journal of Pediatric Neurology 6, no. 4 (January 1, 2008): 357–60. https://doi.org/10.1055/s-0035-1557474.
Dib RE, Karam P, Mikati MA, Steinberg S, Habbal MZ. D-bifunctional protein deficiency, a novel mutation. Journal of Pediatric Neurology. 2008 Jan 1;6(4):357–60.
Dib, R. E., et al. “D-bifunctional protein deficiency, a novel mutation.” Journal of Pediatric Neurology, vol. 6, no. 4, Jan. 2008, pp. 357–60. Scopus, doi:10.1055/s-0035-1557474.
Dib RE, Karam P, Mikati MA, Steinberg S, Habbal MZ. D-bifunctional protein deficiency, a novel mutation. Journal of Pediatric Neurology. 2008 Jan 1;6(4):357–360.
Published In
Journal of Pediatric Neurology
DOI
EISSN
1875-9041
ISSN
1304-2580
Publication Date
January 1, 2008
Volume
6
Issue
4
Start / End Page
357 / 360
Related Subject Headings
- Neurology & Neurosurgery
- 3213 Paediatrics
- 3209 Neurosciences
- 11 Medical and Health Sciences