Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry
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 collab...
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th-mahidol.255292018-09-07T15:53:44Z Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry Pornswan Wasant Isamu Matsumoto Somporn Liammongkolkul Mahidol University Kanazawa Medical University Medicine 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. 2018-09-07T08:53:44Z 2018-09-07T08:53:44Z 1999-12-01 Article Southeast Asian Journal of Tropical Medicine and Public Health. Vol.30, No.SUPPL. 2 (1999), 160-165 01251562 2-s2.0-0347181621 https://repository.li.mahidol.ac.th/handle/123456789/25529 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0347181621&origin=inward |
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Medicine Pornswan Wasant Isamu Matsumoto Somporn Liammongkolkul Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry |
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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. |
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Mahidol University |
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Mahidol University Pornswan Wasant Isamu Matsumoto Somporn Liammongkolkul |
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Pornswan Wasant Isamu Matsumoto Somporn Liammongkolkul |
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Pornswan Wasant |
title |
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry |
title_short |
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry |
title_full |
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry |
title_fullStr |
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry |
title_full_unstemmed |
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry |
title_sort |
detection of inborn errors of metabolism in thai infants via gas chromatography and mass spectrometry |
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2018 |
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https://repository.li.mahidol.ac.th/handle/123456789/25529 |
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