•A11其他代謝異常 Other metabolic disorders
【罕病分類】│【查詢其他】
•紫質症 Porphyria |
•Lesch-Nyhan氏症候群 Lesch-Nyhan syndrome |
•亞硫酸鹽氧化酶缺乏 Sulfite oxidase deficiency |
•先天性醣基化障礙 Congenital disorder of glycosylation, CDG |
•三甲基胺尿症 Trimethylaminuria |
•低磷酸酯酶症 Hypophosphatasia |
•Beta硫解酶缺乏症 Beta-Ketothiolase deficiency |
•大腦肌酸缺乏症 Cerebral creatine deficiency |
•硫胺素(維生素B1)代謝功能障礙症候群 Thiamine metabolism dysfunction syndromes |