Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
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 | | | |
2007 | Sibling phenotype concordance in classical infantile Pompe disease | Smith, W. E.; Sullivan-Saarela, J. A.; Li, J. S.; Cox, G. F.; Corzo, D.; Chen, Y. T.; Kishnani, P. S. | Am J Med Genet A 143A(21), 2493-501 | | | |
2011 | The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. | Banugaria, S. G.; Prater, S. N.; Ng, Y. K.; Kobori, J. A.; Finkel, R. S.; Ladda, R. L.; Chen, Y. T.; Rosenberg, A. S.; Kishnani, P. S. | Genetics in Medicine 13(8), 729-736 | | | |