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- W2404697777 abstract "The role of neuroimaging in the lysosomal disorders has previously been limited to the initial evaluation and diagnosis of these disease processes and to the detection of treatable disease-related complications, such as hydrocephalus. Localization of changes to the gray or the white matter was useful in guiding the metabolic evaluation when clinical findings were indeterminate or unclear. Imaging features such as dilated VR spaces in MPS storage disease or focal calcifications in Krabbe's disease were occasionally pathognomonic for or highly suggestive of a specific disorder. Now that treatment options, including enzyme replacement therapy and bone marrow transplantation, are available for some of the neurometabolic disorders, staging before the initiation of therapy and evaluation throughout therapy are additional important roles. Even in those disease processes that are currently untreatable, imaging is useful in defining the radiographic appearance of the natural course of a given disorder, to aid in staging and treatment evaluation of future patients with that same disorder when treatment becomes available." @default.
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- W2404697777 date "1994-05-01" @default.
- W2404697777 modified "2023-09-23" @default.
- W2404697777 title "Neuroradiology of lysosomal disorders." @default.
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