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Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
Er, Tze-Kiong; Chen, Chih-Chieh; Chien, Yin-Hsiu; Liang, Wen-Chen; Kan, Tzu-Min; Jong, Yuh-Jyh.
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  • Er TK; Division of Molecular Diagnostics, Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, 100 Shih-Chuan 1st Rd., Kaohsiung 80708, Taiwan; Translational Research Center, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, T
  • Chen CC; Institute of Bioinformatics and Systems Biology, College of Biological Science and Technology, National Chiao Tung University, 75 Bo-Ai Street, Hsinchu 30068, Taiwan; Center for Lipid Biosciences, Kaohsiung Medical University Hospital, 100 Shih-Chuan 1st Rd., Kaohsiung 80708, Taiwan; Biomedical Tech
  • Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan. Electronic address: chienyh@ntu.edu.tw.
  • Liang WC; Center for Lipid Biosciences, Kaohsiung Medical University Hospital, 100 Shih-Chuan 1st Rd., Kaohsiung 80708, Taiwan; Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, 100 Shih-Chuan 1st Rd., Kaohsiung 80708, Taiwan. Electronic address: peggieliang@yaho
  • Kan TM; Department of Pediatrics, Kaohsiung Medical University Hospital, 100 Shih-Chuan 1st Rd., Kaohsiung 80708, Taiwan. Electronic address: nekokan1983@yahoo.com.tw.
  • Jong YJ; Division of Molecular Diagnostics, Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, 100 Shih-Chuan 1st Rd., Kaohsiung 80708, Taiwan; Department of Pediatrics, Kaohsiung Medical University Hospital, 100 Shih-Chuan 1st Rd., Kaohsiung 80708, Taiwan
Clin Chim Acta ; 429: 18-25, 2014 Feb 15.
Article en En | MEDLINE | ID: mdl-24444888
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Enfermedad del Almacenamiento de Glucógeno Tipo II / Alfa-Glucosidasas Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Chim Acta Año: 2014 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Enfermedad del Almacenamiento de Glucógeno Tipo II / Alfa-Glucosidasas Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Chim Acta Año: 2014 Tipo del documento: Article