Last Updated: 09/26/2026
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Found 49 publications
Should the "mitochondrial cocktail" be a default option? An opinion.
Journal: Molecular genetics and metabolism
Published: October 29, 2025
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 22, 2024
Plasma arginine levels in arginase deficiency in the "real world".
Journal: Molecular genetics and metabolism reports
Published: November 01, 2023
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: November 30, 2022
The role and control of arginine levels in arginase 1 deficiency.
Journal: Journal of inherited metabolic disease
Published: August 15, 2022
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
Journal: Brain communications
Published: November 29, 2021
Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency.
Journal: Molecular therapy. Nucleic acids
Published: July 23, 2021
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Journal: Molecular genetics and metabolism reports
Published: February 17, 2021
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: September 11, 2019
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.
Journal: Molecular genetics and metabolism reports
Published: July 18, 2019
Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
Journal: Molecular genetics & genomic medicine
Published: July 10, 2019
Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.
Journal: JCI insight
Published: May 20, 2019
Last Updated: 09/26/2026