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| Pediatric Neurology Briefs: Volume 29, Issue 01 |
Fatty Acyl-CoA Reductase 1 Deficiency Open Access (recommended)
Descriptions
- Resource type(s)
- Article
- Keyword
- Peroxisomal disorder
Fatty Acyl-CoA Reductase 1
Developmental delay
- Rights
- Attribution 4.0 International
- Creator
-
Swisher, Charles N.
- Abstract
-
Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
- Publisher
-
DigitalHub. Galter Health Sciences Library
Pediatric Neurology Briefs Publishers
- Date Created
-
2015
- Original Identifier
- PNB-29-06
- Language
- English
- Subject: MESH
-
Neurosurgery
Pediatrics
Neurology
Brain Diseases
Child Development
Child
Nervous System Diseases
Infant
- DOI
-
10.15844/pedneurbriefs-29-1-5
File Details
- File Properties
-
Mime type: application/pdf
File size: 125.8 kB