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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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Autores principales: Bayleran, J, Hechtman, P, Kolodny, E, Kaback, M
Formato: Artigo
Lenguaje:Inglês
Publicado: 1987
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684329/
https://ncbi.nlm.nih.gov/pubmed/2959149
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