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Krabbe은 질환은 종종 신경계에 치명적인 리소좀 저장 질환입니다.
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.Last updated on Apr 9, 2018
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Krabbe Disease
1.0.0 by bedieman
Apr 9, 2018