Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA et al.
Journal of Neuroscience Research, 2016
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
Fiumara A et al.
Clinical Genetics, 2011
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
Lissens W et al.
Human Mutation, 2007
Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD).
Lee WC et al.
Neurobiology of Disease, 2006
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
Wenger DA et al.
Human Mutation, 1997
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