The molecular basis of mucopolysaccharidosis type I in two Thai patients

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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Main Authors: James R. Ketudat Cairns, Siriporn Keeratichamroen, Supattra Sukcharoen, Voraratt Champattanachai, Lukana Ngiwsara, Kriengsak Lirdprapamongkol, Somporn Liammongkolkul, Chantragan Srisomsap, Rudee Surarit, Pornswan Wasant, Jisnuson Svasti
Other Authors: Chulabhorn Research Institute
Format: Article
Published: 2018
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/16836
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spelling 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
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Medicine
spellingShingle 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
description 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).
author2 Chulabhorn Research Institute
author_facet 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
format Article
author James R. Ketudat Cairns
Siriporn Keeratichamroen
Supattra Sukcharoen
Voraratt Champattanachai
Lukana Ngiwsara
Kriengsak Lirdprapamongkol
Somporn Liammongkolkul
Chantragan Srisomsap
Rudee Surarit
Pornswan Wasant
Jisnuson Svasti
author_sort 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
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/16836
_version_ 1763495276926992384

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