A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?

Two adult siblings with early onset dementia are described. At presentation, in their early 30s, they showed poor judgment and disinhibition. A progressive dementia ensued over several years. Brain MRI disclosed diffusely increased T2 signal in the cerebral white matter, suggestive of a leukodystrop...

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Hlavní autoři: Simon, D., Rodriguez, M., Frosch, M., Quackenbush, E., Feske, S., Natowicz, M.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 1998
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2170209/
https://ncbi.nlm.nih.gov/pubmed/9703182
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