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La enfermedad de Krabbe es a menudo fatal enfermedad de almacenamiento lisosomal en el sistema nervioso.
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.Novedades de Última Versión 1.0.0
Last updated on 09/04/2018
Minor bug fixes and improvements. Install or update to the newest version to check it out!
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Krabbe Disease
1.0.0 by bedieman
09/04/2018