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

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...

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Main Authors: Lukana Ngiwsara (Author), Duangrurdee Wattanasirichaigoon (Author), Thipwimol Tim-Aroon (Author), Kitiwan Rojnueangnit (Author), Saisuda Noojaroen (Author), Arthaporn Khongkraparn (Author), Phannee Sawangareetrakul (Author), James R. Ketudat-Cairns (Author), Ratana Charoenwattanasatien (Author), Voraratt Champattanachai (Author), Chulaluck Kuptanon (Author), Suthipong Pangkanon (Author), Jisnuson Svasti (Author)
Format: Book
Published: BMC, 2019-09-01T00:00:00Z.
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