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Krabbe Disease

1.0.0 by bedieman

2018年04月09日

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關於Krabbe Disease

克拉伯病往往是致命的溶酶體貯積病神經系統。

Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease which results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1965). New York, Missouri and Kentucky include Krabbe in the newborn screening panel.