Article

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

2021-08-12

Abstract excerpt

<title>Abstract</title> <p>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 or chronic neuronopathic GD. The purposes of this study were to describe clinical charact...

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Literature Corpus work: 21c28719-8c48-5c78-837d-35704c2b1769
DOI: 10.21203/rs.3.rs-796169/v1

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