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Robert J. Desnick

Icahn School of Medicine at Mount Sinai
University of Minnesota
Mount Sinai Hospital

787

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The chloroquine-induced phenocopy of Fabry disease keratopathy

2021 Molecular Genetics and Metabolism
- Chester B. Whitley
- Robert J. Desnick
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Dual therapy with migalastat and agalsidase-beta in a patient with Fabry disease with progressing hypertrophic cardiomyopathy

2021 Molecular Genetics and Metabolism
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ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice.

2021 Molecular Therapy
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ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria.

2021 Blood Advances
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Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure.

2021 Genetics in Medicine
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Correction to: Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management.

2021 Current Neurology and Neuroscience Reports
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Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.

2021 International Journal of Environmental Research and Public Health
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Acute Hepatic Porphyrias: "Purple Flags"-Clinical Features that should Prompt Specific Diagnostic Testing.

2021 The American Journal of the Medical Sciences
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Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management.

2020 Current Neurology and Neuroscience Reports
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AAV2/6 gene therapy in a murine model of Fabry disease results in supraphysiological enzyme activity and effective substrate reduction

2020 Molecular therapy. Methods & clinical development
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