Last Updated: 09/26/2026
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Found 7 publications
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Journal: American journal of human genetics
Published: April 14, 2022
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Journal: American journal of human genetics
Published: April 09, 2020
Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate.
Journal: Molecular genetics and metabolism reports
Published: November 03, 2015
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
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Journal: European journal of human genetics : EJHG
Published: September 17, 2013
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Journal: Hepatology (Baltimore, Md.)
Published: July 03, 2012
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Last Updated: 09/26/2026