Suma P. Shankar, Ph.D.
Affiliations: | University of Iowa, Iowa City, IA |
Area:
Inherited eye diseaseGoogle:
"Suma Shankar"Mean distance: 22.73 (cluster 32)
Parents
Sign in to add mentor| Edwin M. Stone | grad student | 2005 | University of Iowa | |
| (Modifier genes in the phenotypic manifestation of primary disease-causing mutations.) | ||||
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Publications
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| Feldt-Rasmussen U, Hughes D, Sunder-Plassmann G, et al. (2020) Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study. Molecular Genetics and Metabolism |
| Mistry PK, Lukina E, Turkia HB, et al. (2020) Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial Molecular Genetics and Metabolism. 129: S110-S111 |
| Ramaswami U, Bichet DG, Clarke LA, et al. (2019) Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Molecular Genetics and Metabolism |
| Feldt-Rasmussen U, Hughes D, Sunder-Plassmann G, et al. (2019) Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 30-month results from the randomized phase 3 ATTRACT study Molecular Genetics and Metabolism. 126 |
| Ankala A, Jain N, Hubbard B, et al. (2018) Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome. American Journal of Medical Genetics. Part A |
| Schiffmann R, Bichet DG, Jovanovic A, et al. (2018) Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet Journal of Rare Diseases. 13: 68 |
| Germain DP, Brand E, Burlina A, et al. (2018) Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Molecular Genetics & Genomic Medicine |
| Peragallo JH, Keller S, van der Knaap MS, et al. (2017) Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. Ophthalmic Genetics. 1-4 |
| Mistry PK, Lukina E, Ben Turkia H, et al. (2017) Outcomes after 18 Months of Eliglustat Therapy in Treatment-Naïve Adults with Gaucher Disease Type 1: The Phase 3 ENGAGE Trial. American Journal of Hematology |
| Schiffmann R, Bichet DG, Hughes DA, et al. (2017) Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study Molecular Genetics and Metabolism. 120: S119 |