Lysosomal Storage Disease 1 Phenotype, diagnosis, and treatment of Gaucher's disease
Lysosomal Storage Disease 1 Phenotype, diagnosis, and treatment of Gaucher's disease
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Publisher
London: Lancet
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Language
English
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Publisher
London: Lancet
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Contents
Gauchers disease continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. Analyses of several thousand affected individuals have broadened the range of the pan-ethnic disease variants, provided initial genotype and phenotype correlations, and established the effectiveness of enzyme therapy. L...
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Full title
Lysosomal Storage Disease 1 Phenotype, diagnosis, and treatment of Gaucher's disease
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TN_cdi_proquest_journals_199030295
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_199030295
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ISSN
0140-6736
E-ISSN
1474-547X
DOI
10.1016/S0140-6736(08)61522-6
