Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
Background: Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopathic GD; GD type 2 or acute neuronopathic GD; and GD type 3...
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| Main Authors: | , , , , , , , , , , , |
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| Other Authors: | |
| Format: | Article |
| Published: |
2022
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| Subjects: | |
| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/77456 |
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| Institution: | Mahidol University |