WebBackground Krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive disorder caused by the deficiency of galactocerebrosidase (GALC) activity. Although most cases are diagnosed in infancy and show a fatal outcome in childhood, adult patients have been identified, showing progressive spastic hemiparesis to tetraparesis, followed by … WebSelect search scope, currently: catalog all catalog, articles, website, & more in one search; catalog books, media & more in the Stanford Libraries' collections; articles+ journal articles & other e-resources
National Center for Biotechnology Information
Webavailable. Many rare genetic diseases can be identified by artificial intelligence (AI) analysis of the facial photo. Phenotyping AI utilizations facilitate comprehensive and accurate genetic evaluations. AI processing of this Big Data to identify rare genetic diseases could bring unimaginable benefits to Web1. mar 2024 · Krabbe disease (KD) is a rare and devastating neurodegenerative disorder caused by mutations in the GALC gene, resulting in increased accumulation of galactosylcerebroside in the brain (MIM 24500). containment policy pdf
The role of microglia in inherited white-matter disorders TACG
Web11. nov 2024 · Krabbe disease is one of the metabolic leukodystrophies caused by dysfunction of the hydrophobic lysosomal enzyme, galactocerebrosidase (EC 3.2.1.46) which is encoded by the GALC gene. Krabbe disease was first reported as a clinical entity 100 years ago, in 1916, by Knud Krabbe ( 1 ). The disease frequency is about … Web1. jún 2006 · Introduction. Krabbe disease (globoid cell leukodystrophy: GLD, MIM 245200) is an autosomal recessive neurodegenerative disorder caused by a deficiency of … Web17. sep 2016 · Inflammation in Krabbe's disease has been considered a secondary effect, resulting from cell‐autonomous oligodendroglial cell death or myelin loss resulting from … containment savings