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malattia di Krabbe è spesso fatale malattia da accumulo lisosomiale al sistema nervoso.
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.Novità nell'ultima versione 1.0.0
Last updated on Apr 9, 2018
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Krabbe Disease
1.0.0 by bedieman
Apr 9, 2018