Affiliation:
1. Laboratory of Neurochemistry, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Md. 20014
Abstract
Abstract
The antenatal diagnosis of all nine known sphingolipid storage diseases is feasible at the present time. To ensure maximum reliability for such important determinations, radiolabeled lipids should be used for detecting fetuses with Niemann-Pick disease, Krabbe's disease, and ceramide lactoside lipidosis. Various artificial substrates may be used with confidence to detect metachromatic leukodystrophy, Fabry's disease, the classic and variant forms of Tay-Sachs disease, and Gaucher's disease.
Publisher
Oxford University Press (OUP)
Subject
Biochemistry, medical,Clinical Biochemistry
Cited by
26 articles.
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1. Inborn Errors of Lipid Metabolism;Advances in Enzymology - and Related Areas of Molecular Biology;2006-11-22
2. Diagnostic and Therapeutic Applications of Sphingolipid Hydrolyzing Enzymes;Modulation by Molecular Interactions - Current Topics in Cellular Regulation;1985
3. Lipid Metabolism and Its Disorders;Clinical Biochemistry of Domestic Animals;1980
4. Basic findings and current developments in sphingolipidoses;Human Genetics;1979
5. A Comparison of Leucocytes and Cultured ‘Fibroblasts’ in Diagnosis;The Cultured Cell and Inherited Metabolic Disease;1977