| Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry. | |
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MedLine Citation:
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PMID: 9053555 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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N M Verhoeven; W Kulik; C M van den Heuvel; C Jakobs |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 18 Suppl 1 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 1995 |
Date Detail:
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Created Date: 1997-03-13 Completed Date: 1997-03-13 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 45-60 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Free University Hospital Amsterdam, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amniotic Fluid
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chemistry Bile Acids and Salts / analysis Fatty Acids / analysis Female Gas Chromatography-Mass Spectrometry Humans Infant, Newborn Peroxisomal Disorders / blood, diagnosis* Phytanic Acid / analysis Pipecolic Acids / analysis Pregnancy Prenatal Diagnosis* Radioisotope Dilution Technique Reference Values |
| Chemical | |
Reg. No./Substance:
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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 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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