Studies of genotype-phenotype relationship and factors related to the outcome of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency and the genetic counseling
碩士 === 國立陽明大學 === 遺傳學研究所 === 94 === In Taiwan, 6-Pyruvoyl- tetrahydropterin synthase (PTPS) deficiency is the cause of approximately one-third of all cases of hyperphenylalaninemia (HPA). Its prevalence (1/132,000) is considerably higher than that in Caucasian populations (1/1,000,000). This allows...
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| Format: | Others |
| Language: | zh-TW |
| Published: |
2006
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| Online Access: | http://ndltd.ncl.edu.tw/handle/20439891952309496581 |