Last Updated: 09/26/2026
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Found 9 publications
Response to Newman et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 08, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 01, 2017
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Journal: JAMA neurology
Published: March 09, 2016
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Journal: Molecular genetics and metabolism
Published: August 02, 2015
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 13, 2014
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 16, 2013
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Journal: Hepatology (Baltimore, Md.)
Published: July 03, 2012
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: June 18, 2012
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Last Updated: 09/26/2026