Ophthalmologic Aspects of Lipid Storage Diseases
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference18 articles.
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2. Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease;Kolodny;Biochem Biophys Res Commun,1969
3. Generalized gangliosidosis: Beta-gangliosidase deficiency;Okada;Science,1968
4. The metabolism of sphingomyelin I: Evidence of an enzymatic deficiency in Niemann-Pick disease;Brady;Proc Natl Acad Sci USA,1966
5. Enzymatic defect in Fabry's disease: Ceramidetrihexosidase deficiency;Brady;N Engl J Med,1967
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2. Defects in the retina of Niemann-pick type C 1 mutant mice;BMC Neuroscience;2014-11-29
3. Corneal Alterations during Combined Therapy with Cyclodextrin/Allopregnanolone and Miglustat in a Knock-Out Mouse Model of NPC1 Disease;PLoS ONE;2011-12-06
4. GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed;Developmental Medicine & Child Neurology;2011-11-24
5. Lack of Niemann–Pick type C1 induces age-related degeneration in the mouse retina;Molecular and Cellular Neuroscience;2010-01
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