Publication: The molecular basis of mucopolysaccharidosis type I in two Thai patients
| dc.contributor.author | James R. Ketudat Cairns | en_US |
| dc.contributor.author | Siriporn Keeratichamroen | en_US |
| dc.contributor.author | Supattra Sukcharoen | en_US |
| dc.contributor.author | Voraratt Champattanachai | en_US |
| dc.contributor.author | Lukana Ngiwsara | en_US |
| dc.contributor.author | Kriengsak Lirdprapamongkol | en_US |
| dc.contributor.author | Somporn Liammongkolkul | en_US |
| dc.contributor.author | Chantragan Srisomsap | en_US |
| dc.contributor.author | Rudee Surarit | en_US |
| dc.contributor.author | Pornswan Wasant | en_US |
| dc.contributor.author | Jisnuson Svasti | en_US |
| dc.contributor.other | Chulabhorn Research Institute | en_US |
| dc.contributor.other | Suranaree University of Technology | en_US |
| dc.contributor.other | Mahidol University | en_US |
| dc.date.accessioned | 2018-06-21T08:23:30Z | |
| dc.date.available | 2018-06-21T08:23:30Z | |
| dc.date.issued | 2005-09-01 | en_US |
| dc.description.abstract | 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). | en_US |
| dc.identifier.citation | Southeast Asian Journal of Tropical Medicine and Public Health. Vol.36, No.5 (2005), 1308-1312 | en_US |
| dc.identifier.issn | 01251562 | en_US |
| dc.identifier.other | 2-s2.0-30344436387 | en_US |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/20.500.14594/16836 | |
| dc.rights | Mahidol University | en_US |
| dc.rights.holder | SCOPUS | en_US |
| dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=30344436387&origin=inward | en_US |
| dc.subject | Medicine | en_US |
| dc.title | The molecular basis of mucopolysaccharidosis type I in two Thai patients | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=30344436387&origin=inward | en_US |