High-risk screening for Gaucher disease in patients with neurological symptoms
High-risk screening for Gaucher disease in patients with neurological symptoms
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase enzyme activity. Clinical phenotypes of GD are categorized into three groups: (i) non-neuronopathic GD (type 1), (ii) acute neuronopathic GD (type 2) and (iii) subacute neuronopathic GD (type 3). The high-risk screening of neuron...
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Full title
High-risk screening for Gaucher disease in patients with neurological symptoms
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TN_cdi_proquest_miscellaneous_2020491939
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2020491939
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-018-0438-7
