| Authors | J A Smeitink, F A Beemer, M Espeel, R A Donckerwolcke, C Jakobs, R J Wanders, R B Schutgens, F Roels, M Duran, L Dorland |
| Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 15
Issue 3
Pg. 377-80
( 1992)
ISSN: 0141-8955 [Print] United States |
| PMID | 1405474
(Publication Type: Case Reports, Journal Article)
|
| Chemical References |
- Plasmalogens
- Phytanic Acid
|
| Topics |
- Chondrodysplasia Punctata
(etiology, pathology)
- Female
- Humans
- Infant
- Liver
(ultrastructure)
- Metabolism, Inborn Errors
(complications, metabolism, therapy)
- Microbodies
(metabolism, pathology)
- Microscopy, Electron
- Phytanic Acid
(blood)
- Plasmalogens
(biosynthesis)
- Plasmapheresis
|
