Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

by Weinreb, Neal J., Finegold, David N., Feingold, Eleanor, Zeng, Zhen, Rosenbloom, Barry E., Shankar, Suma P., Amato, Dominick
Published 2015

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

by Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Shankar, Suma P, Schiffmann, Raphael, Chang, Peter, Shen, Yinghua, Pano, Arian
Published 2016

Enzyme replacement therapy with taliglucerase alfa: 36‐month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase

by Pastores, Gregory M., Shankar, Suma P., Petakov, Milan, Giraldo, Pilar, Rosenbaum, Hanna, Amato, Dominick J., Szer, Jeffrey, Chertkoff, Raul, Brill‐Almon, Einat, Zimran, Ari
Published 2016

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

by Shankar, Suma P., Hughbanks-Wheaton, Dianna K., Birch, David G., Sullivan, Lori S., Conneely, Karen N., Bowne, Sara J., Stone, Edwin M., Daiger, Stephen P.
Published 2016

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

by Wijburg, Frits A., Bénichou, Bernard, Bichet, Daniel G., Clarke, Lorne A., Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J., Mauer, Michael, Najafian, Behzad, Scott, C. Ronald, Shankar, Suma P., Thurberg, Beth L., Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma
Published 2015