C. Anthony Rupar

FACTs Fabry gene therapy clinical trial: Two-year data

J. Medin, Aneal Khan, D. Barber, 2019, Molecular Genetics and Metabolism.

Coma, hyperammonemia, metabolic acidosis, and mutation: Lessons learned in the acute management of late onset urea cycle disorders

C. Prasad, R. Lindsay, Hari Iyer, 2011, Hemodialysis international. International Symposium on Home Hemodialysis.

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch‐German) Mennonite and Hutterite patients in North America

C. Ober, R. Hegele, V. Siu, 2012, American journal of medical genetics. Part A.