The molecular basis of mucopolysaccharidosis type I in two Thai patients.

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dc.contributor.authorKetudat Cairns, James Ren_US
dc.contributor.authorKeeratichamroen, Siripornen_US
dc.contributor.authorSukcharoen, Supattraen_US
dc.contributor.authorChampattanachai, Voraratten_US
dc.contributor.authorNgiwsara, Lukanaen_US
dc.contributor.authorLirdprapamongkol, Kriengsaken_US
dc.contributor.authorLiammongkolkul, Sompornen_US
dc.contributor.authorSrisomsap, Chantraganen_US
dc.contributor.authorSurarit, Rudeeen_US
dc.contributor.authorWasant, Pornswanen_US
dc.contributor.authorSvasti, Jisnusonen_US
dc.date.accessioned2009-05-27T14:37:46Z
dc.date.available2009-05-27T14:37:46Z
dc.date.issued2005-09-28en_US
dc.descriptionThe Southeast Asian Journal of Tropical Medicine and Public Health.en_US
dc.description.abstractTwo Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable alpha-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.description.affiliationLaboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.en_US
dc.identifier.citationKetudat Cairns JR, Keeratichamroen S, Sukcharoen S, Champattanachai V, Ngiwsara L, Lirdprapamongkol K, Liammongkolkul S, Srisomsap C, Surarit R, Wasant P, Svasti J. The molecular basis of mucopolysaccharidosis type I in two Thai patients. The Southeast Asian Journal of Tropical Medicine and Public Health. 2005 Sep; 36(5): 1308-12en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/30647
dc.language.isoengen_US
dc.source.urihttps://www.tm.mahidol.ac.th/seameo/2005_36_5/36-3659.pdfen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshDNA Primersen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMucopolysaccharidosis I --diagnosisen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshSequence Analysis, DNAen_US
dc.subject.meshThailanden_US
dc.titleThe molecular basis of mucopolysaccharidosis type I in two Thai patients.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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