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Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.

An Ashkenazi Jewish brother and sister developed progressive ataxia and proximal neurogenic muscle weakness, associated with supranuclear ophthalmoplegia, in the fourth decade of life. Hexosaminidase A activity, assayed using both synthetic and natural substrates, was severely reduced in the patient...

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Detalhes bibliográficos
Main Authors: Harding, A E, Young, E P, Schon, F
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1032071/
https://ncbi.nlm.nih.gov/pubmed/2956362
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