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1、罕見病診療指南（2019年版）目錄1.21-羥化酶缺乏癥............................................................................................................................12.白化病.............................................................................................................................................
2、.83.奧爾波特綜合征............................................................................................................................134.肌萎縮側(cè)索硬化............................................................................................................................195.天使綜合征....................
3、................................................................................................................266.精氨酸酶缺乏癥............................................................................................................................327.窒息性胸腔失養(yǎng)癥（熱納綜合征）.................................
4、...........................................................368.非典型溶血性尿毒癥綜合征........................................................................................................429.自身免疫性腦炎.............................................................................................................
5、...............4710.自身免疫性垂體炎......................................................................................................................5711.自身免疫性胰島素受體病..........................................................................................................6512.β-酮硫解酶缺乏癥.................
6、.....................................................................................................7113.生物素酶缺乏癥..........................................................................................................................7614.心臟離子通道病....................................................
7、......................................................................8115.原發(fā)性肉堿缺乏癥......................................................................................................................9016.
