Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

• Główni autorzy: Lukana Ngiwsara (Autor), Duangrurdee Wattanasirichaigoon (Autor), Thipwimol Tim-Aroon (Autor), Kitiwan Rojnueangnit (Autor), Saisuda Noojaroen (Autor), Arthaporn Khongkraparn (Autor), Phannee Sawangareetrakul (Autor), James R. Ketudat-Cairns (Autor), Ratana Charoenwattanasatien (Autor), Voraratt Champattanachai (Autor), Chulaluck Kuptanon (Autor), Suthipong Pangkanon (Autor), Jisnuson Svasti (Autor)
• Format: Książka
• Wydane: BMC, 2019-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in...