Immunomodulatory gene therapy in lysosomal storage disorders

par Koeberl, D.D., Kishnani, P.S.
Publié 2009

Glycogen storage disease types I and II: Treatment updates

par Koeberl, D. D., Kishnani, P. S., Chen, Y. T.
Publié 2007

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

par Bao, Y, Kishnani, P, Wu, J Y, Chen, Y T
Publié 1996

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

par Wang, M, Kishnani, P, Decker-Phillips, M, Kahler, S G, Chen, Y T, Godfrey, M
Publié 1996

Divergent phenotypes in Gaucher disease implicate the role of modifiers

par Goker-Alpan, O, Hruska, K, Orvisky, E, Kishnani, P, Stubblefield, B, Schiffmann, R, Sidransky, E
Publié 2005

Cardiac Pathology in Glycogen Storage Disease Type III

par Austin, S. L., Proia, A. D., Spencer-Manzon, M. J., Butany, J., Wechsler, S. B., Kishnani, P. S.
Publié 2012

Development of a disease severity scoring system for patients with Pompe disease

par Giannini, E, Berger, K, Ploeg, A van der, Case, L, Dandrea, C, Kishnani, P, Marsden, D
Publié 2008