Publication:
A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria

Issued Date

2009-10-01

Resource Type

Article

ISSN

15363678
10774114

DOI

10.1097/MPH.0b013e3181a32bb8

Other identifier(s)

2-s2.0-70349843628

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Journal of Pediatric Hematology/Oncology. Vol.31, No.10 (2009), 768-770

Suggested Citation

Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon, Pim Suwannarat, Werasak Sasanakul, Ampaiwan Chuansumrit A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria. Journal of Pediatric Hematology/Oncology. Vol.31, No.10 (2009), 768-770. doi:10.1097/MPH.0b013e3181a32bb8 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/27900

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Title

A novel mutation of cystathionine β-synthase gene in a thai boy with homocystinuria

Author(s)

Nongnuch Sirachainan
 Duangrurdee Wattanasirichaigoon
 Pim Suwannarat
 Werasak Sasanakul
 Ampaiwan Chuansumrit

Other Contributor(s)

Mahidol University

Abstract

The authors reported a 14-year-old boy who presented with multiple organs thrombosis and subluxation of lens. His diagnosis of homocystinuria was delayed owing to the unrecognition of the disease resulting in significant morbidity. The mutation analysis showed one novel mutation that can explain the high level of plasma homocysteine. © 2009 by Lippincott Williams & Wilkins.

Keyword(s)

Medicine

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URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/27900

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Scopus 2006-2010