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sialidosis type i
释义
sialidosis type I
An autosomal recessive [MIM 256550] condition characterised by a deficiency of -N-acetylneuraminidase, most common in the Japanese, with a preadolescent onset
sialidosis type I
Cherry-red spot myoclonus syndrome, see there.
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更新时间:2026/10/8 4:15:02