An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosido...
में बचाया:
| में प्रकाशित: | J Neurol Neurosurg Psychiatry |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BMJ Publishing Group
1991
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1014692/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1838393/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jnnp.54.12.1112 |
| टैग: |
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