Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

作者: Chia-Feng Yang , Chen Chang Yang , Hsuan-Chieh Liao , Ling-Yi Huang , Chuan-Chi Chiang

DOI: 10.1016/J.JPEDS.2015.10.078

关键词:

摘要: … Furthermore, we compare the outcomes of 5 patients with IOPD who have identical GAA gene mutations to disclose possible differences between few days earlier treatment. …

参考文章(32)
M C Piper, T Maguire, J Darrah, L E Pinnell, P J Byrne, Construction and validation of the Alberta Infant Motor Scale (AIMS) Canadian Journal of Public Health-revue Canadienne De Sante Publique. ,(1992)
Jeng-Jer Shieh, Ching-Yuang Lin, Molecular Study on the Infantile Form of Pompe Disease in Chinese in Taiwan Acta paediatrica sinica. ,vol. 37, pp. 115- 121 ,(1996) , 10.7097/APS.199604.0115
Juan L. Bonilla-Palomas, Antonio L. Gámez-López, María A. Tejero-Hernández, Ignacio Tejero-Mateo, Juana López-López, When should we start enzyme replacement therapy for infantile Pompe disease with severe cardiomyopathy Revista Espanola De Cardiologia. ,vol. 65, pp. 100- 102 ,(2012) , 10.1016/J.REC.2011.03.023
Hsuan-Chieh Liao, Chuan-Chi Chiang, Dau-Ming Niu, Chung-Hsing Wang, Shu-Min Kao, Fuu-Jen Tsai, Yu-Hsiu Huang, Hao-Chuan Liu, Chun-Kai Huang, He-Jin Gao, Chia-Feng Yang, Min-Ju Chan, Wei-De Lin, Yann-Jang Chen, Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan. Clinica Chimica Acta. ,vol. 431, pp. 80- 86 ,(2014) , 10.1016/J.CCA.2014.01.030
Y.-H. Chien, N.-C. Lee, B. L. Thurberg, S.-C. Chiang, X. K. Zhang, J. Keutzer, A.-C. Huang, M.-H. Wu, P.-H. Huang, F.-J. Tsai, Y.-T. Chen, W.-L. Hwu, Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. ,vol. 124, ,(2009) , 10.1542/PEDS.2008-3667
Doug A. Brooks, Immune Response to Enzyme Replacement Therapy in Lysosomal Storage Disorder Patients and Animal Models Molecular Genetics and Metabolism. ,vol. 68, pp. 268- 275 ,(1999) , 10.1006/MGME.1999.2894
Eri Oda, Toju Tanaka, Ohsuke Migita, Motomichi Kosuga, Masaru Fukushi, Toshika Okumiya, Makiko Osawa, Torayuki Okuyama, Newborn screening for Pompe disease in Japan Molecular Genetics and Metabolism. ,vol. 104, pp. 560- 565 ,(2011) , 10.1016/J.YMGME.2011.09.002
A. D. Dierenfeld, M. F. McEntee, C. A. Vogler, C. H. Vite, A. H. Chen, M. Passage, S. Le, S. Shah, J. K. Jens, E. M. Snella, K. L. Kline, J. D. Parkes, W. A. Ware, L. E. Moran, A. J. Fales-Williams, J. A. Wengert, R. D. Whitley, D. M. Betts, A. M. Boal, E. A. Riedesel, W. Gross, N. M. Ellinwood, P. I. Dickson, Replacing the Enzyme α-l-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type I Science Translational Medicine. ,vol. 2, ,(2010) , 10.1126/SCITRANSLMED.3001380
Carin M. van Gelder, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Iris Plug, Ans T. van der Ploeg, Arnold J. J. Reuser, Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease Journal of Inherited Metabolic Disease. ,vol. 38, pp. 305- 314 ,(2015) , 10.1007/S10545-014-9707-6
Sarah P. Young, Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir, Deeksha S. Bali, Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques American Journal of Medical Genetics Part C-seminars in Medical Genetics. ,vol. 160, pp. 50- 58 ,(2012) , 10.1002/AJMG.C.31320