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Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
Cases of infantile Tay-Sachs disease (TSD) with high residual hexosaminidase A (Hex A) activity have recently been described. The clinical presentation of the disease in these patients is identical to that found among Ashkenazi-Jewish patients. Fibroblasts from two such TSD patients had Hex A activi...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1987
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1684329/ https://ncbi.nlm.nih.gov/pubmed/2959149 |
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