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

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 ty...

Source: Orphanet Journal of Rare Diseases - December 20, 2021 Category: Internal Medicine Authors: Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong and Duangrurdee Wattanasirichai Tags: Research Source Type: research