High Incidence Genetic Diseases in Taiwan. Part I: Molecular Studies of Homocystinuria. Part II: Improvement of the Sensitivity of Newborn Screening of Fabry disease Through a High-throughput and Cost-effective Method, DNA Mass Spectrometry, in Taiwan
博士 === 國立陽明大學 === 臨床醫學研究所 === 106 === Abstract Part I: Molecular Studies of Homocystinuria. Homocystinuria is an inherited autosomal recessive disorder of methionine metabolism. It caused by cystathionine β-synthase (CBS) deficiency, leading to an abnormal accumulation of homocysteine and its metabo...
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| Format: | Others |
| Language: | en_US |
| Published: |
2018
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| Online Access: | http://ndltd.ncl.edu.tw/handle/8484t4 |