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inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation.
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Genes
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| GALC |
100
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| PSAP |
100
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 Individual Studies |
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Mus musculus
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Mutations/Phenotypic
Homo sapiens
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Peripheral neuropathy in Krabbe disease: electrodiagnostic findings.
Authors: Zaeem A Siddiqi, Donald B Sanders, Janice M Massey
Neurology 2006 Jul 25 -
Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease.
Authors: F Galbiati, M I Givogri, L Cantuti, A Lopez Rosas, H Cao, R van Breemen, E R Bongarzone
Journal of neuroscience research 2009 Jun
Thought leaders and organizations working on research involving Krabbe's disease.
- Masonic Cancer Center, University of Minnesota
- National Institute of Neurological Disorders and Stroke (NINDS)
- Zymenex A/S
- National Center for Research Resources (NCRR)
- Aldagen
- Duke University Medical Center
- University of North Carolina at Chapel Hill
- University of Alberta Hospital
- Osaka University Graduate School of Medicine
- Medical University of South Carolina
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Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
conditions: Krabbe Disease
interventions: none
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Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
conditions: Hurler's Syndrome ; Maroteaux-Lamy Syndrome ; Sly Syndrome ; Alpha Mannosidosis ; Fucosidosis ; Aspartylglucosaminuria ; Sphingolipidoses ; Krabbe Disease ; Wolman's Disease ; Niemann-Pick Disease Type B ; Niemann-Pick Disease, Type C
interventions: Stem Cell Transplantation ; Campath, Busulfan, Cyclophosphamide
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