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Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9147326

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

About this item

Full title

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

Publisher

Switzerland: MDPI AG

Journal title

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5842

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Deficient acid β-glucocerebrosidase activity due to biallelic mutations in
results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infants with severe neurodegeneration. While type 1 GD (GD1) is considered non-neuronopathic, a...

Alternative Titles

Full title

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9147326

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9147326

Other Identifiers

ISSN

1422-0067,1661-6596

E-ISSN

1422-0067

DOI

10.3390/ijms23105842

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