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Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis

โœ Scribed by R. B. H. Schutgens; H. S. A. Heymans; R. J. A. Wanders; H. van den Bosch; G. Schrakamp


Publisher
Springer
Year
1985
Tongue
English
Weight
251 KB
Volume
8
Category
Article
ISSN
0141-8955

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Deficiency of plasmalogens in the cerebr
โœ H. S. A. Heymans; H. v. d. Bosch; R. B. H. Schutgens; W. H. H. Tegelaers; J. -U. ๐Ÿ“‚ Article ๐Ÿ“… 1984 ๐Ÿ› Springer ๐ŸŒ English โš– 876 KB

We have analyzed the phospholipid composition of various organs of patients with the cerebro-hepato-renal (Zellweger) syndrome. The phospholipid composition of tissues from controls and patients was very similar except for their plasmalogen contents. In controls about 50% of the phosphatidylethanola