| Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS. | |
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MedLine Citation:
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PMID: 18343209 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Propionic acidemia is a frequent inborn error of metabolism. Methylcitric acid, a key indicator of propionic acidemia, increases in the amniotic fluid of affected fetuses. For prenatal diagnosis, the methylcitric acid in amniotic fluid can be measured by stable-isotope dilution GC/MS. Here, we quantified this indicator in samples of amniotic fluid that had been dried on filter paper and transported at ambient temperatures, and compared the results with data obtained from the original amniotic fluid. We then used the filter-paper method to screen at-risk fetuses and obtained a clear-cut diagnosis in each case. |
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Authors:
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Yoshito Inoue; Morimasa Ohse; Toshihiro Shinka; Tomiko Kuhara |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2008-03-04 |
Journal Detail:
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Title: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences Volume: 870 ISSN: 1570-0232 ISO Abbreviation: J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. Publication Date: 2008 Jul |
Date Detail:
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Created Date: 2008-07-22 Completed Date: 2008-10-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101139554 Medline TA: J Chromatogr B Analyt Technol Biomed Life Sci Country: Netherlands |
Other Details:
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Languages: eng Pagination: 160-3 Citation Subset: IM |
Affiliation:
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Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Ishikawa 9200293, Japan. yosh@kanazawa-med.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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diagnosis* Amniotic Fluid / chemistry* Citrates / analysis* Gas Chromatography-Mass Spectrometry / methods* Humans Prenatal Diagnosis / methods* Propionic Acids / blood* |
| Chemical | |
Reg. No./Substance:
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0/Citrates; 0/Propionic Acids; 6061-96-7/2-methylcitric acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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