Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes.

by Jennifer Concepcion, Katherine Chen, Rintaro Saito, Jon Gangoiti, Eric Mendez, Maria Eleni Nikita, Bruce A Barshop, Loki Natarajan, Kumar Sharma, Jane J Kim
Published 2020-01-01

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

by Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum
Published 2020-03-01

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

by Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators
Published 2017-08-01