Associated Papers
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Feltri ML et al.
Glia, 2021
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
Tuncer FN et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Analysis of age-related changes in psychosine metabolism in the human brain.
Marshall MS et al.
Plos One, 2018
Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.
Marshall MS et al.
Journal of Neuroscience Research, 2016
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
Debs R et al.
Journal of Inherited Metabolic Disease, 2013
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.
Kardas F et al.
Gene, 2013
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
Raghavan S et al.
Journal of Inherited Metabolic Disease, 2005
Globoid cell leukodystrophy (Krabbe's disease): update.
Suzuki K
Journal of Child Neurology, 2003
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
Selleri S et al.
Journal of Neurology, 2000
Molecular heterogeneity of Krabbe disease.
Fu L et al.
Journal of Inherited Metabolic Disease, 1999
Molecular basis of late-life globoid cell leukodystrophy.
De Gasperi R et al.
Human Mutation, 1999
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
Wenger DA et al.
Human Mutation, 1997
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
Luzi P et al.
Annals of Neurology, 1996