Article
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Orphanet journal of rare diseases - 20 Dec 2021
Phetthong Tim, Tim-Aroon Thipwimol, Khongkraparn Arthaporn, Noojarern Saisuda, Kuptanon Chulaluck, Wichajarn Khunton, Sathienkijkanchai Achara, Suphapeetiporn Kanya, Charoenkwan Pimlak, Tantiworawit Adisak, Noentong Naruwan, Wattanasirichaigoon Duangrurdee
Abstract excerpt
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 characteristics of Thai GD in...
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