Skip navigation
  • 中文
  • English

DSpace CRIS

  • DSpace logo
  • Home
  • Organizations
  • Researchers
  • Research Outputs
  • Projects
  • Explore by
    • Organizations
    • Researchers
    • Research Outputs
    • Projects
  • Academic & Publications
  • Sign in
  • 中文
  • English
  1. Scholars Hub of the Academia Sinica
  2. Research Outputs

Browsing by Author Kishnani, P. S.


Jump to:
0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Showing results 1 to 20 of 20
Issue DateTitleAuthor(s)RelationscopusWOSFulltext/Archive link
2008AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type IaKoeberl, D. D.; Pinto, C.; Sun, B.; Kozink, D. M.; Benjamin, D. K.; Demaster, A. K.; Kruse, M. A.; Vaughn, V.; Hillman, S.; Bird, A.; Jackson, M.; Brown, T.; Kishnani, P. S.; Chen, Y. T.Mol Ther 16, 665-672
2006Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe diseaseCook, A. L.; Kishnani, P. S.; Carboni, M. P.; Kanter, R. J.; Chen, Y. T.; Ansong, A. K.; Kravitz, R. M.; Rice, H.; Li, J. S.Genet Med 8, 313-317
2001Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia)Kishnani, P. S.; Faulkner, E.; VanCamp, S.; Jackson, M.; Brown, T.; Boney, A.; Koeberl, D.; Chen, Y. T.Vet Pathol 38, 83-91
2006Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe diseaseKishnani, P. S.; Nicolino, M.; Voit, T.; Rogers, R. C.; Tsai, A. C.; Waterson, J.; Herman, G. E.; Amalfitano, A.; Thurberg, B. L.; Richards, S.; Davison, M.; Corzo, D.; Chen, Y. T.J Pediatr 149(1), 89-97
2006Comparison 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 diseaseZhang, 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
1999Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?Ahmad, A.; Amalfitano, A.; Chen, Y. T.; Kishnani, P. S.; Miller, C.; Kelley, R.Am J Med Genet 86, 503-504
2006Electrocardiographic response to enzyme replacement therapy for Pompe diseaseAnsong, A. K.; Li, J. S.; Nozik-Grayck, E.; Kravitz, R. M.; Idriss, S. F.; Kanter, R. J.; Rice, H.; Chen, Y. T.; Kishnani, P. S.Genet Med 8, 297-301
2007Enhanced response to enzyme replacement therapy in Pompe disease after the indcution of immune toleranceSun, B.; Bird, A.; Young, S. P.; Kishnani, P. S.; Chen, Y. T.; Koeberl, D. D.Am J Hum Genet 81, 1042-1049
2007Fractures in children with Pompe disease: a potentiallong-term complicationCase, L. E.; Hanna, R.; Frush, D. P.; Krishnamurthy, V.; DeArmey, S.; Mackey, J.; Boney, A.; Morgan, C.; Corzo, D.; Bouchard, S.; Weber, T. J.; Chen, Y. T.; Kishnani, P. S.Pediatr Radiol 37(5), 437-445
2000Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage diseaseShaiu, W. L.; Kishnani, P. S.; Shen, J.; Liu, H. M.; Chen, Y. T.Mol Genet Metab 69, 16-23
2005Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe diseaseAn, Y.; Young, S. P.; Kishnani, P. S.; Millington, D. S.; Amalfitano, A.; Corz, D.; Chen, Y. T.Mol Genet Metab 85, 247-254
2007Glycogen 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
2007Important role of abnormal glycogen structure in the development of liver cirrhosis and progression to hepatocellular carcinoma in patients with glycogen storage disease type-IIIKishnani, P. S.; Chen, Y. T.J Hepatology 47(2), 300-301
1997Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type IaKishnani, P. S.; Bao, Y.; Wu, J. Y.; Brix, A. E.; Lin, J. L.; Chen, Y. T.Biochem Mol Med 61, 168-177
1999Nutritional deficiencies in a patient with glycogen storage disease type IbKishnani, P. S.; Boney, A.; Chen, Y. T.J Inherit Metab Dis 22, 795-801
1996Pulmonary hypertension in glycogen storage disease type IKishnani, P. S.; Bengur, A. R.; Chen, Y. T.J Inherit Metab Dis 19, 213-216
2003Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningKoeberl, 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
2007Recombinant human acid alpha-glucosidase. Major clinical benefits in infantile-onset Pompe diseaseKishnani, 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
2007Sibling phenotype concordance in classical infantile Pompe diseaseSmith, 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
2011The 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
Showing results 1 to 20 of 20
Explore by
  • Academic & Publications
  • Organizations
  • Researchers
  • Research Outputs
  • Projects
Build with DSpace-CRIS - Extension maintained and optimized by Logo 4SCIENCE Feedback