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Late onset G(M2)-gangliosidosis: Clinical, pathological, and biochemical studies on 8 patients

Eight cases of late onset G(M2)-gangliosidosis are described. 4 presented before the age of 2 years and 4 between 3½ and 10 years. Gait disturbance, intellectual deterioration, and fits were prominent features. Optic atrophy was seen at a late stage in 2 patients. An exaggerated startle reaction to...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Brett, E. M., Ellis, R. B., Haas, L., Ikonne, J. U., Lake, B. D., Patrick, A. D., Stephens, Rosemary
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1973
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1648533/
https://ncbi.nlm.nih.gov/pubmed/4270725
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