Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
1996 | Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease | McConkie-Rosell, A.; Wilson, C.; Piccoli, D. A.; Boyle, J.; DeClue, T.; Kishnani, P.; Shen, J. J.; Boney, A.; Brown, B.; Chen, Y. T. | J Inherit Metab Dis 19, 51-58 | | | |
1999 | Defects in Metabolism of Carbohydrates | Kishnani, P.; Chen, Y. -T. | Nelson Textbook of Pediatrics, 16th Edition (Philadelphia, PA, USA : Saunders Co.) | | | |
2005 | Defects in Metabolism of Carbohydrates | Kishnani, P.; Chen, Y. -T. | Behrman R.E., Kliegman R.M., and Jenson H.B. (eds) Nelson Textbook of Pediatrics, 18th Edition (Philadelphia : Saunders Co.) | | | |
2002 | Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors | Beaty, R. M.; Jackson, M.; Peterson, D.; Bird, A.; Brown, T.; Benjamin, D. K.; Juopperi, T.; Kishnani, P.; Boney, A.; Chen, Y. T.; Koeberl, D. D. | Gene Ther 9, 1015-1022 | | | |
1996 | Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome | Wang, M.; Kishnani, P.; Decker-Phillips, M.; Kahler, S. G.; Chen, Y. T.; Godfrey, M. | J Med Genet 33, 760-763 | | | |
1996 | Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene | Bao, Y.; Kishnani, P.; Wu, J. Y.; Chen, Y. T. | J Clin Invest 97, 941-948 | | | |
2004 | Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease | Hunley, T. E.; Corzo, D.; Dudek, M.; Kishnani, P.; Amalfitano, A.; Chen, Y. T.; Richards, S. M.; Phillips, J. A.; Fogo, A. B.; Tiller, G. E. | Pediatrics 114, e532-e535 | | | |
2001 | Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial | Amalfitano, A.; Bengur, A. R.; Morse, R. P.; Majure, J. M.; Case, L. E.; Veerling, D. L.; Mackey, J.; Kishnani, P.; Smith, W.; McVie-Wylie, A.; Sullivan, J. A.; Hoganson, G. E.; Phillips, J. A.; Schaefer, G. B.; Charrow, J.; Ware, R. E.; Bossen, E. H.; Chen, Y. T. | Genet Med 3, 132-138 | | | |