Janet A. Thomas

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Gregory M. Pastores, Pamela Arn, Michael Beck et al. · Molecular Genetics and Metabolism · 2007 · 203 citations

Mucopolysaccharidosis Type, Medicine, International Health +8

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

Janet A. Thomas, Harvey L. Levy, Stephen Amato et al. · Molecular Genetics and Metabolism · 2018 · 175 citations · Full text

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Nicola Longo, David Dimmock, Harvey L. Levy et al. · Genetics in Medicine · 2018 · 85 citations · Full text

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Johan L.K. Van Hove, Margarita Sáenz, Janet A. Thomas et al. · Pediatric Research · 2010 · 81 citations · Full text

Succinyl-coa Ligase Deficiency, Hepatology, Mitochondrial Function +4

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Kathryn C. Chatfield, Curtis R. Coughlin, Marisa W. Friederich et al. · Mitochondrion · 2015 · 70 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mitochondrial Biogenesis +10