Last Updated:2025/12/06
A deficiency of trihexosidase can lead to the accumulation of globotriaosylceramide in tissues, which is characteristic of Fabry disease.
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A deficiency of trihexosidase can lead to the accumulation of globotriaosylceramide in tissues, which is characteristic of Fabry disease.
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トリヘキソシドを加水分解する酵素(しばしばα-ガラクトシダーゼ、別名セラミド・トリヘキソシド加水分解酵素)の欠損により、グロボトリアオシルセラミドが組織に蓄積し、これはファブリー病の特徴です。