نتایج جستجو برای: metachromatic leukodystrophy
تعداد نتایج: 3076 فیلتر نتایج به سال:
Copyright © 2010 Frederick Furness Publishing 16 A focus on enzyme replacement therapies (ERT) for lysosomal storage diseases has led Shire Human Genetic Therapies, Inc (Shire HGT) to develop products for treating Fabry disease, Hunter syndrome, and type 1 Gaucher disease. These products are administered intravenously (IV) and are effective in treating the somatic symptoms of the disease. Devel...
Leukodystrophies are rare diseases caused by defects in the genes coding for lysosomal enzymes that degrade several glycosphingolipids. Gene therapy for leukodystrophies requires efficient distribution of the missing enzymes in CNS tissues to prevent demyelination and neurodegeneration. In this work, we targeted the external capsule (EC), a white matter region enriched in neuronal projections, ...
Leukoencephalopathies are diseases with high clinical heterogeneity. In clinical work, it's difficult for doctors to make a definite etiological diagnosis. Here, we designed a custom probe library which contains the known pathogenic genes reported to be associated with Leukoencephalopathies, and performed targeted gene capture and massively parallel sequencing (MPS) among 49 Chinese patients wh...
BACKGROUND AND PURPOSE Radially oriented hypointense stripes in hyperintense cerebral white matter are recognized on T2-weighted images of certain lysosomal storage disorders. We compared in vivo and postmortem MR imaging with histopathologic findings in three patients with metachromatic leukodystrophy (MLD), globoid cell leukodystrophy (GLD), and infantile GM1 gangliosidosis (GM1) to understan...
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