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Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 1995; Vol. 18 Suppl 1, pp. 45-60. - Publication Year :
- 1995
-
Abstract
- Quantitative analysis of the following peroxisomal metabolites is reported: very long-chain fatty acids (VLCFA), pipecolic acid, bile acid intermediates, phytanic and pristanic acid, in plasma, urine, cerebrospinal fluid (CSF), blood spots collected at neonatal screening and amniotic fluid. An overview is given of the concentrations of these metabolites in body fluids from control subjects and all patients investigated so far in this laboratory. The method of choice is gas chromatography -- mass spectrometry (GC-MS) with electron capture detection, combined with the use of stable-isotope-labelled internal standards.
- Subjects :
- Amniotic Fluid chemistry
Bile Acids and Salts analysis
Fatty Acids analysis
Female
Gas Chromatography-Mass Spectrometry
Humans
Infant, Newborn
Peroxisomal Disorders blood
Phytanic Acid analysis
Pipecolic Acids analysis
Pregnancy
Radioisotope Dilution Technique
Reference Values
Peroxisomal Disorders diagnosis
Prenatal Diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 0141-8955
- Volume :
- 18 Suppl 1
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 9053555
- Full Text :
- https://doi.org/10.1007/BF00711428