Glycogen storage disease types I and II: treatment updates.
作者： D. D. Koeberl , P. S. Kishnani , Y. T. Chen
DOI: 10.1007/S10545-007-0519-9
关键词:
摘要: Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long-term complications GSD I I) have not responded with uncooked cornstarch or continuous gastric feeding. The recognized significant risk renal liver malignancy has prompted efforts towards curative therapy, including organ transplantation, those deemed at risk. Results clinical trials infantile alglucosidase alfa (Myozyme) showed prolonged reversal cardiomyopathy, motor gains. This resulted broad label approval Myozyme 2006. Furthermore, development experimental therapies, such as adeno-associated virus (AAV) vector-mediated gene holds promise availability II/Pompe future.
springer.com
sci-hub.se 参考文章(46)
R Charles Scriver, The Metabolic and Molecular Bases of Inherited Disease ,(1995)
L H Hoefsloot, M Hoogeveen-Westerveld, A J J Reuser, B A Oostra, Characterization of the human lysosomal alpha-glucosidase gene. Biochemical Journal. ,vol. 272, pp. 493- 497 ,(1990) , 10.1042/BJ2720493
Elvira Ponce, David P. Witte, Rochelle Hirschhorn, Maryann L. Huie, Gregory A. Grabowski, Murine Acid α-Glucosidase: Cell-Specific mRNA Differential Expression during Development and Maturation American Journal of Pathology. ,vol. 154, pp. 1089- 1096 ,(1999) , 10.1016/S0002-9440(10)65361-8
Sandeep K. Tripathy, Hugh B. Black, Eugene Goldwasser, Jeffrey M. Leiden, Immune responses to transgene–encoded proteins limit the stability of gene expression after injection of replication–defective adenovirus vectors Nature Medicine. ,vol. 2, pp. 545- 550 ,(1996) , 10.1038/NM0596-545
Priya Sunil Kishnani, Marc Nicolino, Thomas Voit, R. Curtis Rogers, Anne Chun-Hui Tsai, John Waterson, Gail E. Herman, Andreas Amalfitano, Beth L. Thurberg, Susan Richards, Mark Davison, Deyanira Corzo, Y.T. Chen, CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α-GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE The Journal of Pediatrics. ,vol. 149, pp. 89- 97 ,(2006) , 10.1016/J.JPEDS.2006.02.035
Hannerieke Van den Hout, Arnold JJ Reuser, Arnold G Vulto, M Christa B Loonen, Adri Cromme-Dijkhuis, Ans T Van der Ploeg, Recombinant human α-glucosidase from rabbit milk in Pompe patients The Lancet. ,vol. 356, pp. 397- 398 ,(2000) , 10.1016/S0140-6736(00)02533-2
L. M. Franco, V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, J. Sullivan, D. P. Frush, Y.-T. Chen, P. S. Kishnani, Hepatocellular carcinoma in glycogen storage disease type Ia: A case series Journal of Inherited Metabolic Disease. ,vol. 28, pp. 153- 162 ,(2005) , 10.1007/S10545-005-7500-2
Kerry O. Cresawn, Thomas J. Fraites, Clive Wasserfall, Mark Atkinson, Melissa Lewis, Stacy Porvasnik, Chen Liu, Cathryn Mah, Barry J. Byrne, Impact of Humoral Immune Response on Distribution and Efficacy of Recombinant Adeno-Associated Virus-Derived Acid α-Glucosidase in a Model of Glycogen Storage Disease Type II Human Gene Therapy. ,vol. 16, pp. 68- 80 ,(2005) , 10.1089/HUM.2005.16.68
Ke-Jian Lei, Hungwen Chen, Chi-Jiunn Pan, Jerrold M. Ward, Bedrich Mosinger, Eric J. Lee, Heiner Westphal, Brian C. Mansfield, Janice Yang Chou, Glucose–6–phosphatase dependent substrate transport in the glycogen storage disease type–1a mouse Nature Genetics. ,vol. 13, pp. 203- 209 ,(1996) , 10.1038/NG0696-203
David S Millington, Newborn Screening for Lysosomal Storage Disorders Clinical Chemistry. ,vol. 51, pp. 808- 809 ,(2005) , 10.1373/CLINCHEM.2005.048553