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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Buxton, P., Cumings, J. N., Ellis, R. B., Lake, B. D., Mair, W. G. P., Roberts, J. R., Young, E. P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1972
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC494150/
https://ncbi.nlm.nih.gov/pubmed/5084137
Etiketak: Etiketa erantsi
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