The molecular basis of mucopolysaccharidosis type I in two Thai patients
Two Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable α-iduronidase (E.C. 3.2.1.76) activity in leukocytes, while normal Thai children all had significant activity, with a mean of 135 ± 30 nmol/mg/18h. One patient was heterozygous for...
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th-mahidol.168362018-06-21T15:23:30Z The molecular basis of mucopolysaccharidosis type I in two Thai patients James R. Ketudat Cairns Siriporn Keeratichamroen Supattra Sukcharoen Voraratt Champattanachai Lukana Ngiwsara Kriengsak Lirdprapamongkol Somporn Liammongkolkul Chantragan Srisomsap Rudee Surarit Pornswan Wasant Jisnuson Svasti Chulabhorn Research Institute Suranaree University of Technology Mahidol University Medicine Two Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable α-iduronidase (E.C. 3.2.1.76) activity in leukocytes, while normal Thai children all had significant activity, with a mean of 135 ± 30 nmol/mg/18h. One patient was heterozygous for A75T (311G>A) and S633L (1986C>T) mutation, previously reported to cause MPS I, together with 9 other heterozygous polymorphisms also found in normal controls. The other patient had the previously described frameshift mutation 252insert C and a new nonsense mutation E299X (983G>T). 2018-06-21T08:23:30Z 2018-06-21T08:23:30Z 2005-09-01 Article Southeast Asian Journal of Tropical Medicine and Public Health. Vol.36, No.5 (2005), 1308-1312 01251562 2-s2.0-30344436387 https://repository.li.mahidol.ac.th/handle/123456789/16836 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=30344436387&origin=inward |
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Medicine James R. Ketudat Cairns Siriporn Keeratichamroen Supattra Sukcharoen Voraratt Champattanachai Lukana Ngiwsara Kriengsak Lirdprapamongkol Somporn Liammongkolkul Chantragan Srisomsap Rudee Surarit Pornswan Wasant Jisnuson Svasti The molecular basis of mucopolysaccharidosis type I in two Thai patients |
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Two Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable α-iduronidase (E.C. 3.2.1.76) activity in leukocytes, while normal Thai children all had significant activity, with a mean of 135 ± 30 nmol/mg/18h. One patient was heterozygous for A75T (311G>A) and S633L (1986C>T) mutation, previously reported to cause MPS I, together with 9 other heterozygous polymorphisms also found in normal controls. The other patient had the previously described frameshift mutation 252insert C and a new nonsense mutation E299X (983G>T). |
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Chulabhorn Research Institute |
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Chulabhorn Research Institute James R. Ketudat Cairns Siriporn Keeratichamroen Supattra Sukcharoen Voraratt Champattanachai Lukana Ngiwsara Kriengsak Lirdprapamongkol Somporn Liammongkolkul Chantragan Srisomsap Rudee Surarit Pornswan Wasant Jisnuson Svasti |
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Article |
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James R. Ketudat Cairns Siriporn Keeratichamroen Supattra Sukcharoen Voraratt Champattanachai Lukana Ngiwsara Kriengsak Lirdprapamongkol Somporn Liammongkolkul Chantragan Srisomsap Rudee Surarit Pornswan Wasant Jisnuson Svasti |
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James R. Ketudat Cairns |
title |
The molecular basis of mucopolysaccharidosis type I in two Thai patients |
title_short |
The molecular basis of mucopolysaccharidosis type I in two Thai patients |
title_full |
The molecular basis of mucopolysaccharidosis type I in two Thai patients |
title_fullStr |
The molecular basis of mucopolysaccharidosis type I in two Thai patients |
title_full_unstemmed |
The molecular basis of mucopolysaccharidosis type I in two Thai patients |
title_sort |
molecular basis of mucopolysaccharidosis type i in two thai patients |
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2018 |
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https://repository.li.mahidol.ac.th/handle/123456789/16836 |
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1763495276926992384 |