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中文Free Sialic Acid Storage Disorders
Alias:
Free Sialic Acid Storage Disease
Sialic Acid Storage Disease, Finnish Type
N-Acetylneuraminic Acid Storage Disease
Sialuria
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自由唾液酸储存障碍，又称自由唾液酸储存病，与婴儿唾液酸储存病和唾液酸储存病有关，症状包括癫痫、共济失调和舞蹈病。与自由唾液酸储存障碍有关的重要基因是SLC17A5（溶质载体家族17成员5）。相关组织包括大脑和皮肤，相关表型为智力障碍和痉挛
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MALACARDS
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MGI
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