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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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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
1987
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1032071/ https://ncbi.nlm.nih.gov/pubmed/2956362 |
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