305 罕見疾病醫療小檔案 附錄一 Spinocerebellar Ataxias 1/10,000 35 50 1. 2. 3.
絕地花園 306 SCA1 SCA12 22 10 Multiple Sclerosis MS 2 4 5 1,000
307 罕見疾病醫療小檔案 20 40
絕地花園 308 Hereditary Epidermolysis Bullosa 1/50,000 3 3 20
309 罕見疾病醫療小檔案 Huntington Disease 1/10,000 4
絕地花園 310 4p16.32 CAG 35 50 1. 2. 3.
311 罕見疾病醫療小檔案 15 25 Duchenne Muscular Dystrophy DMD 1/3,500 5,000 1/1,000 X DMD DMD Dystrophin Dystrophin
絕地花園 312 X 2 X X 50 50 50 3 7 12 13
313 罕見疾病醫療小檔案 Gaucher s Disease 2015 9 30
絕地花園 314 Cerezyme Zevesca Miglustat FDA ERT 2 Urea Cycle Disorders 1/30,000 1/70,000
315 罕見疾病醫療小檔案 Ucephan Buphenyl 300 / 3- -3-3-Hydroxy-3-Methyl-Glutaric Acidemia 10 26 Leucine
絕地花園 316 L-Carnitine
317 罕見疾病醫療小檔案 N- Primary Carnitine Deficiency complicated with low N-Acetylglutamate Synthetase activity N- N-Acetylglutamate Synthetase Deficiency, NAGS Deficiency N- 2 1 7 1/40,000 2 4
絕地花園 318 Levo-Carnitine N- N- NAG N- NAG N- NAGS N- NAGS
319 罕見疾病國際重要相關網站 附錄二 National Organization for Rare Disorders http://rarediseases.org/ Genetic Alliance http://www.geneticalliance.org/ March of Dimes Birth Defect Foundation http://www.marchofdimes.org/ Eurordis-European Organization for Rare Diseases http://www.eurordis.org/ Genetic and Rare Conditions Site http://www.kumc.edu/gec/support/ http://www.mps.org.hk/tc/index.html