Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
2006 | Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease | Zhang, H.; Kallwass, H.; Young, S. P.; Carr, C.; Dai, J.; Kishnani, P. S.; Millington, D. S.; Keutzer, J.; Chen, Y. T.; Bali, D. | Genet Med 8, 302-306 | | | |
2010 | Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants | Koshnani, P. S.; Goldenberg, P. C.; DeArmey, S. L.; Heller, J.; Benjamin, D.; Young, S.; Bali, D.; Smith, S. A.; Li, J. S.; Mandel, H.; Koeberl, D.; Rosenberg, A.; Chen, Y. T. | MOLECULAR GENETICS AND METABOLISM 99(1), 26-33 | | | |
2002 | Glycogen storage disease type I: diagnosis and phenotype/genotype correlation | Matern, D.; Seydewitz, H. H.; Bali, D.; Lang, C.; Chen, Y. T. | Eur J Pediatr 161, S10-S19 | | | |
2007 | Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? | Demo, E.; Frush, D.; Gottfried, M.; Koepke, J.; Boney, A.; Bali, D.; Chen, Y. T.; Kishnani, P. S. | Journal of Hepatology 46(3), 492-498 | | | |
2006 | Non-lethal congenital hypotonia due to glycogen storage disease type IV | Burrow, T. A.; Hopkin, R. J.; Bove, K. E.; Miles, L.; Wong, B. L.; Choudhary, A.; Bali, D.; Li, S. C.; Chen, Y. T. | Am J Med Genet A 140, 878-882 | | | |
2002 | Prenatal diagnosis in glycogen storage diseases. Commentary | Chen, Y. T.; Bali, D.; Sullivan, J. | Prenat Diagn 22, 357-359 | | | |
2003 | Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening | Koeberl, D. D.; Young, S. P.; Gregersen, N. S.; Vockley, J.; Smith, W. E.; Benjamin, D. K.; An, Y.; Weavil, S. D.; Chaing, S. H.; Bali, D.; McDonald, M. T.; Kishnani, P. S.; Chen, Y. T.; Millington, D. S. | Pediatr Res 54, 219-223 | | | |
2007 | Recombinant human acid alpha-glucosidase. Major clinical benefits in infantile-onset Pompe disease | Kishnani, P. S.; Corzo, D.; Nicolino, M.; Byrne, B.; Mandel, H.; Hwu, W. L.; Leslie, N.; Levine, J.; Spencer, C.; McDonald, M.; Li, J.; Dumontier, J.; Halberthal, M.; Chien, Y. H.; Hopkin, R.; Vijayaraghavan, S.; Gruskin, D.; Bartholomew, D.; van der Ploeg, A.; Clancy, J. P.; Parini, R.; Morin, G.; Beck, M.; De la Gastine, G. S.; Jokic, M.; Thurberg, B.; Richards, S.; Bali, D.; Davison, M.; Worden, M. A.; Chen, Y. T.; Wraith, J. E. | Neurology 68(2), 99-109 | | | |