- A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene
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Lee EH, Ahn MS, Hwang JS, Ryu KH, Kim SJ, Kim SH
- KMID: 1781895
- J Korean Med Sci.
- 2006 Oct;21(5):800-804.
- doi: 10.3346/jkms.2006.21.5.800
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment.... -
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