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Last Updated: 10/31/2025
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Found 1248 publications
A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype
Journal: Rinsho shinkeigaku = Clinical neurology
Published: October 19, 2025
Correction to "Self-Assembly of Accumulated Sphingolipids into Cytotoxic Fibrils in Globoid Cell Leukodystrophy and Their Inhibition by Small Molecules in Vitro".
Journal: ACS nano
Published: September 10, 2025
Chimeric enzymes enhance treatment potential for globoid cell leukodystrophy through hematopoietic stem cell gene therapy.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: August 29, 2025
Krabbe disease: a differential cause of the hyperdense boomerang sign.
Journal: Arquivos de neuro-psiquiatria
Published: August 04, 2025
Beyond Krabbe disease, the intriguing connection of galactocerebrosidase (GALC) with nervous system illness: A novel risk factor?
Journal: Neuroscience
Published: July 03, 2025
Self-Assembly of Accumulated Sphingolipids into Cytotoxic Fibrils in Globoid Cell Leukodystrophy and Their Inhibition by Small Molecules In Vitro.
Journal: ACS nano
Published: July 02, 2025
Molecular Characterization of the GALC Mutation Thr112Ala Causing Krabbe Disease.
Journal: International journal of molecular sciences
Published: June 23, 2025
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia mimicking adult-onset Krabbe disease.
Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Published: June 18, 2025
Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.
Journal: Molecular genetics and metabolism
Published: June 16, 2025
Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing.
Journal: Journal of the peripheral nervous system : JPNS
Published: April 01, 2025
Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases.
Journal: Molecular genetics and metabolism
Published: March 17, 2025
Last Updated: 10/31/2025