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Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction

The cerebral sphingolipidoses which form part of a larger group of lysosomal disorders can be detected and conclusively confirmed by the demonstration of the relevent enzyme deficiency in easily available tissue samples like serum. We have assayed acid β-galactosidase, β-hexosaminidase and its isozy...

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Detalhes bibliográficos
Main Authors: Christopher, Rita, Shetty, K. Taranath
Formato: Artigo
Idioma:Inglês
Publicado em: Springer India 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3453671/
https://ncbi.nlm.nih.gov/pubmed/23100874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/BF02873671
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