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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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Autors principals: Buxton, P., Cumings, J. N., Ellis, R. B., Lake, B. D., Mair, W. G. P., Roberts, J. R., Young, E. P.
Format: Artigo
Idioma:Inglês
Publicat: 1972
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC494150/
https://ncbi.nlm.nih.gov/pubmed/5084137
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