Multi-system disorders of glycosphingolipid and ganglioside metabolism
Open Access
- 1 July 2010
- journal article
- review article
- Published by Elsevier in Journal of Lipid Research
- Vol. 51 (7) , 1643-1675
- https://doi.org/10.1194/jlr.r003996
Abstract
No abstract availableKeywords
This publication has 368 references indexed in Scilit:
- Absence of oligodendroglial glucosylceramide synthesis does not result in CNS myelin abnormalities or alter the dysmyelinating phenotype of CGT‐deficient miceGlia, 2009
- Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of CholesterolCell, 2009
- Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosisBrain Research, 2009
- Fabry disease in children and the effects of enzyme replacement treatmentEuropean Journal of Pediatrics, 2009
- Pathogenic cascades in lysosomal disease—Why so complex?Journal of Inherited Metabolic Disease, 2009
- Comparative Analysis of Brain Lipids in Mice, Cats, and Humans with Sandhoff DiseaseLipids, 2008
- Randomized, controlled trial of miglustat in Gaucher's disease type 3Annals of Neurology, 2008
- The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase MutationsArchives of Neurology, 2008
- Glycolipid transfer proteinsBiochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2007
- Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouseneurogenetics, 2004