Author:
Rohrbach Marianne,Klein Andrea,Köhli-Wiesner Alice,Veraguth Dorothe,Scheer Ianina,Balmer Christian,Lauener Roger,Baumgartner Matthias R.
Subject
Genetics(clinical),Genetics
Reference26 articles.
1. Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT (2001) Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 3:132–138
2. Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ (2010) Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol 42:455-458
3. Chen CP, Lin SP, Tzen CY, Tsai FJ, Hwu WL, Wang W (2004) Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II. Prenat Diagn 24:231–232
4. Chien YH, Lee NC, Peng SF, Hwu WL (2006) Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. Pediatr Res 60:349–352
5. Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, Chen CA, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL (2008) Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122:e39–e45
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