Cynthia LeMons

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

M. Yudkoff, R. McCarter, S. McCandless, 2019, Genetics in Medicine.

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.

Marshall Summar, Matthias Baumgartner, Jeffrey Krischer, 2010, Molecular genetics and metabolism.

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

D. Rockey, N. Longo, Brendan H. Lee, 2013, Molecular genetics and metabolism.

Population Pharmacokinetic Modeling and Dosing Simulations of Nitrogen‐Scavenging Compounds: Disposition of Glycerol Phenylbutyrate and Sodium Phenylbutyrate in Adult and Pediatric Patients with Urea Cycle Disorders

G. Diaz, B. Scharschmidt, U. Lichter-Konecki, 2013, Journal of clinical pharmacology.

Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2013, The Journal of pediatrics.

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

J L Merritt, B F Scharschmidt, S. Cederbaum, 2012, Molecular genetics and metabolism.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

S. Cederbaum, N. Longo, Brendan H. Lee, 2013, Hepatology.

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2014, Molecular genetics and metabolism.

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Runjun D. Kumar, L. Burrage, S. Nagamani, 2021, Molecular genetics and metabolism reports.