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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/25529
Title: Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry
Authors: Pornswan Wasant
Isamu Matsumoto
Somporn Liammongkolkul
Mahidol University
Kanazawa Medical University
Keywords: Medicine
Issue Date: 1-Dec-1999
Citation: Southeast Asian Journal of Tropical Medicine and Public Health. Vol.30, No.SUPPL. 2 (1999), 160-165
Abstract: We had studied inherited metabolic disorders at the Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University since 1987 using limited resources available and collaboration with other laboratories, both in Thailand and The United States. Since April 1998, we started a collaboration with MILS and Kanazawa Medical University, the Japan, studying inborn errors of metabolism in Asian Countries using urine filter paper and a new GC/MS method. We have since successfully discovered several patients with metabolic disorders. Out of 33 (high-risk) cases we sent for biochemical diagnosis (during April-July 1998), 13 abnormal results were found which is approximately 39.4%. Inherited metabolic disorders identified were as follows: medium-chain acyl CoA dehydrogenase deficiency (MCAD), multiple carboxylase deficiency (MCD), methylmalonic acidemia (MMA), Fanconi syndrome, galactosemia and neuroblastoma.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0347181621&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/25529
ISSN: 01251562
Appears in Collections:Scopus 1991-2000

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