ISSN:
1432-1076
Schlagwort(e):
Zellweger syndrome
;
Prenatal diagnosis
;
Phytanic acid
;
Amniocytes
;
Chorionic villous cells
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF02429053
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