- Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopaminergic deficiency
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Jeon BS
- KMID: 1081046
- J Korean Med Sci.
- 1997 Aug;12(4):269-279.
- doi: 10.3346/jkms.1997.12.4.269
Dopa-responsive dystonia (DRD) is no longer a rare oddity. For the clinician, DRD poses a diagnostic challenge as its clinical presentation can be quite diverse. Marked and sustained response... -
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- Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele
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Kim YS, Choi YB, Lee JH, Yang SH, Cho JH, Shin CH, Lee SD, Paik MK, Hong KM
- KMID: 756328
- Exp Mol Med.
- 2008 Jun;40(3):271-275.
- doi: 10.3858/emm.2008.40.3.271
Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of... -
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