Pranoot Tanpaiboon

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük et al. · Blood · 2010 · 153 citations · Full text

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 89 citations · Full text

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

Jerry Vockley, Barbara K. Burton, Gerard T. Berry et al. · Molecular Genetics and Metabolism · 2017 · 78 citations · Full text

Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier et al. · JCI Insight · 2017 · 68 citations · Full text

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

Jerry Vockley, Barbara K. Burton, Gerard T. Berry et al. · Journal of Inherited Metabolic Disease · 2019 · 59 citations · Full text

Obesity, Metabolic Syndrome, Open‐label Phase 2 +15