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: | , , , , , , , , , , |
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Format: | Article |
Published: |
2018
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Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/16836 |
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Institution: | Mahidol University |