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

• Main Authors: Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong, Duangrurdee Wattanasirichaigoon
• Other Authors: Siriraj Hospital
• Format: Article
• Published: 2022
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/77456
• Institution: Mahidol University

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...