A case of G(M2) gangliosidosis of late onset

A case of G(M2)-gangliosidosis commencing by the age of 5 years is described, in which hyperacusis, dementia, and fits were prominent clinical features. In addition to the typical ganglioside pattern on thin layer chromatography and the presence of membranous bodies in electron microscopic studies a...

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Main Authors: Buxton, P., Cumings, J. N., Ellis, R. B., Lake, B. D., Mair, W. G. P., Roberts, J. R., Young, E. P.
Format: Artigo
Sprog:Inglês
Udgivet: 1972
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC494150/
https://ncbi.nlm.nih.gov/pubmed/5084137
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