Publications by authors named "Stephen Cederbaum"

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Should the "mitochondrial cocktail" be a default option? An opinion.
Peter W Stacpoole, Stephen D Cederbaum

Mol Genet Metab· December 2025

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Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.
Amir Hossein Saeidian, Michael E March, Leila Youssefian, Deborah J Watson, Esha Bhandari, Stephen D Cederbaum

Genet Med· November 2024

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Plasma arginine levels in arginase deficiency in the "real world".
Pranoot Tanpaiboon, Yue Huang, Judy Z Louie, Rajesh Sharma, Stephen Cederbaum

Mol Genet Metab Rep· March 2024

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Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders.
Stephen D Cederbaum, Jeffrey Edwards, Terrie Kellmeyer, Yvette Peters, Robert D Steiner

Mol Genet Metab· April 2023

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Characterization of spastic paraplegia in a family with a novel mutation.
John M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, Rebecca Signer, Julian Martinez-Agosto, Stephen Cederbaum

Brain Commun· February 2023

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The role and control of arginine levels in arginase 1 deficiency.
George A Diaz, Mark Bechter, Stephen D Cederbaum

J Inherit Metab Dis· January 2023

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Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency.
Suhail Khoja, Xiao-Bo Liu, Brian Truong, Matthew Nitzahn, Jenna Lambert, Stephen D Cederbaum

Mol Ther Nucleic Acids· June 2022

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Stephen Cederbaum

Mol Genet Metab Rep· June 2021

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Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
Celeste C Eno, Stacey K Barton, Naghmeh Dorrani, Stephen D Cederbaum, Joshua L Deignan

Mol Genet Genomic Med· January 2020

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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.
Jeremy Woods, Stephen Cederbaum

Mol Genet Metab Rep· December 2019

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Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.
Brian Truong, Gabriella Allegri, Xiao-Bo Liu, Kristine E Burke, Xuling Zhu, Stephen D Cederbaum

Proc Natl Acad Sci U S A· October 2019

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Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.
Xiao-Bo Liu, Jillian R Haney, Gloria Cantero, Jenna R Lambert, Marcos Otero-Garcia, Stephen D Cederbaum

JCI Insight· September 2019

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Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency.
Matthew Koo, Gerald S Lipshutz, Stephen D Cederbaum, Charles Lassman

Pediatr Dev Pathol· May 2019

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Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Barbara K Burton, Kyle Bradford Jones, Stephen Cederbaum, Fran Rohr, Susan Waisbren

Mol Genet Metab· November 2018

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Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Susan E Waisbren, David Cuthbertson, Peter Burgard, Amy Holbert, Robert McCarter, Stephen Cederbaum

J Inherit Metab Dis· July 2018

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Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice.
Stephanie A K Angarita, Brian Truong, Suhail Khoja, Matthew Nitzahn, Abha K Rajbhandari, Stephen D Cederbaum

Mol Genet Metab· June 2018

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Newborn screening for hyperargininemia due to arginase 1 deficiency.
Bradford L Therrell, Robert Currier, David Lapidus, Meredith Grimm, Stephen D Cederbaum

Mol Genet Metab· August 2017

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Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephen D Cederbaum

Mol Ther Nucleic Acids· November 2016

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Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Sandesh C S Nagamani, George A Diaz, William Rhead, Susan A Berry, Cynthia Le Mons, Stephen Cederbaum

Mol Genet Metab· July 2016

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Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy.
Gloria Cantero, Xiao-Bo Liu, Ronald F Mervis, Maria T Lazaro, Stephen D Cederbaum

J Neurosci· June 2016

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
Simon A Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Stephen Cederbaum

Genet Med· May 2016

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Interpreting sequence variants in a clinical context.
Stephen Cederbaum

Genet Med· December 2015

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Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Brendan Lee, George A Diaz, William Rhead, Uta Lichter-Konecki, Annette Feigenbaum, Stephen Cederbaum

Genet Med· July 2015

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Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice.
Chuhong Hu, Jennifer Kasten, Hana Park, Ragini Bhargava, Denise S Tai, Stephen D Cederbaum

Mol Ther· October 2014

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Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.
Renata C Gallagher, Christina Lam, Derek Wong, Stephen Cederbaum, Ronald J Sokol

J Pediatr· April 2014

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