Document Detail

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.
MedLine Citation:
PMID:  9053555     Owner:  NLM     Status:  MEDLINE    
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.
N M Verhoeven; W Kulik; C M van den Heuvel; C Jakobs
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  18 Suppl 1     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1995  
Date Detail:
Created Date:  1997-03-13     Completed Date:  1997-03-13     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  45-60     Citation Subset:  IM    
Department of Pediatrics, Free University Hospital Amsterdam, The Netherlands.
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MeSH Terms
Amniotic Fluid / chemistry
Bile Acids and Salts / analysis
Fatty Acids / analysis
Gas Chromatography-Mass Spectrometry
Infant, Newborn
Peroxisomal Disorders / blood,  diagnosis*
Phytanic Acid / analysis
Pipecolic Acids / analysis
Prenatal Diagnosis*
Radioisotope Dilution Technique
Reference Values
Reg. No./Substance:
0/Bile Acids and Salts; 0/Fatty Acids; 0/Pipecolic Acids; 1189-37-3/pristanic acid; 14721-66-5/Phytanic Acid; 535-75-1/pipecolic acid

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