- A Case of Dihydropteridine Reductase Deficiency
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Oh SJ, Hong YH, Lee YW, Lee ST, Ki CS, Lee DH
- KMID: 1473822
- J Genet Med.
- 2009 Dec;6(2):170-174.
Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. The condition is usually accompanied by hyperphenylalaninemia (HPA) and deficiency of... -
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