Infantile Pompe disease: A case report and review of the Chinese literature

Lin CY and Shieh JJ: Molecular study on the infantile form of Pompe disease in Chinese in Taiwan. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 37:115–121. 1996.PubMed/NCBI

Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F and Corzo D: Infantile-Onset Pompe Disease Natural History Study Group: A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 148:671–676. 2006. View Article : Google Scholar : PubMed/NCBI

Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ and van der Ploeg AT: The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol. 252:875–884. 2005. View Article : Google Scholar : PubMed/NCBI

Kishnani PS and Howell RR: Pompe disease in infants and children. J Pediatr. 144(5 Suppl): S35–S43. 2004. View Article : Google Scholar : PubMed/NCBI

van der Ploeg AT and Reuser AJ: Pompe's disease. Lancet. 372:1342–1353. 2008. View Article : Google Scholar : PubMed/NCBI

Qiu WJ, Wang X, Wang Y, Ye J, Han LS, Zhang HW and Gu XF: Establishment and clinical applicafion of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity. Zhonghua Er Ke Za Zhi. 48:55–59. 2010.(In Chinese). PubMed/NCBI

Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, Chen CA, Wu MH, Huang PH, Tsai FJ, et al: Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program. Pediatrics. 122:e39–e45. 2008. View Article : Google Scholar : PubMed/NCBI

Burton BK: Newborn screening for Pompe disease: An update, 2011. Am J Med Genet C Semin Med Genet. 160C:8–12. 2012. View Article : Google Scholar : PubMed/NCBI

Shieh JJ and Lin CY: Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect. Hum Mutat. 11:306–312. 1998. View Article : Google Scholar : PubMed/NCBI

Kroos M, Hoogeveen-Westerveld M, van der Ploeg A and Reuser AJ: The genotype-phenotype correlation in Pompe disease. Am J Med Genet Part C Semin Med Genet. 160C:59–68. 2012. View Article : Google Scholar : PubMed/NCBI

Swarr DT, Kaufman B, Fogel MA, Finkel R and Ganesh J: Unusual cardiac ‘masses’ in newborn with infantile Pompe disease. JIMD Rep. 5:17–20. 2012. View Article : Google Scholar : PubMed/NCBI

Zeng MH, Qiu WJ, Gu XF, Wang Y, Zhou JD, Ye J, Han LS and Zhang HW: Aplication of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 28:261–265. 2011.(In Chinese). PubMed/NCBI

Taglia A, Picillo E, D'Ambrosio P, Cecio MR, Viggiano E and Politano L: Genetic counseling in Pompe disease. Acta Myol. 30:179–181. 2011.PubMed/NCBI

Del Rizzo M, Fanin M, Cerutti A, Cazzorla C, Milanesi O, Nascimbeni AC, Angelini C, Giordano L, Bordugo A and Burlina AB: Long-term follow-up results in enzyme replacement therapy for Pompe disease: A case report. J Inherit Metab Dis. 33(Suppl 3): S389–S393. 2010. View Article : Google Scholar : PubMed/NCBI

Bailey L: An overview of enzyme replacement therapy for lysosomal storage diseases. Online J Issues Nurs. 13(Manuscript 3)2008.

Beck M: Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther Clin Risk Manag. 5:767–772. 2009. View Article : Google Scholar : PubMed/NCBI