Homocystinuria: the first report in Thailand
An eight year old Thai boy from a consangineous marriage had the clinical findings of mental retardation, dislocated lenses, osteoporosis, fair hair. The diagnosis of homocystinuria was made and confirmed by the screening cyanide nitroprusside test, urinary amino acid chromatography and therapeutic...
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| Main Authors: | , , |
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| Other Authors: | |
| Format: | Article |
| Published: |
2018
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| Subjects: | |
| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/10181 |
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| Institution: | Mahidol University |
| Summary: | An eight year old Thai boy from a consangineous marriage had the clinical findings of mental retardation, dislocated lenses, osteoporosis, fair hair. The diagnosis of homocystinuria was made and confirmed by the screening cyanide nitroprusside test, urinary amino acid chromatography and therapeutic response to pyridoxine therapy. |
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