Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
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
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.
Satoh JI et al.
Neurology, 1997
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
Wenger DA et al.
Human Mutation, 1997
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
De Gasperi R et al.
American Journal of Human Genetics, 1996
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