Publications by authors named "Stephen D 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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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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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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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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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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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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Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Stephen D Cederbaum

Genet Med· December 2017

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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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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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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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l-Citrulline Protects from Kidney Damage in Type 1 Diabetic Mice.
Maritza J Romero, Lin Yao, Supriya Sridhar, Anil Bhatta, Huijuan Dou, Stephen D Cederbaum

Front Immunol· January 2014

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Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Christina Lam, Jennifer M Carter, Stephen D Cederbaum, Julie Neidich, Natalie M Gallant

Mol Genet Metab· December 2013

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Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.
Jennifer Kasten, Chuhong Hu, Ragini Bhargava, Hana Park, Denise Tai, Stephen D Cederbaum

Mol Genet Metab· November 2013

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Arginase 1: an unexpected mediator of pulmonary capillary barrier dysfunction in models of acute lung injury.
Rudolf Lucas, Istvàn Czikora, Supriya Sridhar, Evgeny A Zemskov, Aluya Oseghale, Stephen D Cederbaum

Front Immunol· August 2013

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Protein kinase C-α and arginase I mediate pneumolysin-induced pulmonary endothelial hyperpermeability.
Rudolf Lucas, Guang Yang, Boris A Gorshkov, Evgeny A Zemskov, Supriya Sridhar, Stephen D Cederbaum

Am J Respir Cell Mol Biol· October 2012

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Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy.
Eun K Lee, Chuhong Hu, Ragini Bhargava, Nora Rozengurt, David Stout, Stephen D Cederbaum

Mol Ther· October 2012

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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Natalie M Gallant, Karen Leydiker, Hao Tang, Lisa Feuchtbaum, Fred Lorey, Stephen D Cederbaum

Mol Genet Metab· May 2012

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Diabetes-induced vascular dysfunction involves arginase I.
Maritza J Romero, Jennifer A Iddings, Daniel H Platt, M Irfan Ali, Stephen D Cederbaum

Am J Physiol Heart Circ Physiol· January 2012

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Combined Hurler and Sanfilippo syndrome in a sibling pair.
Angela Sun, John J Hopwood, Jerry Thompson, Stephen D Cederbaum

Mol Genet Metab· June 2011

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An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
Fabiola Quintero-Rivera, Joshua L Deignan, Jane Peredo, Wayne W Grody, Barbara Crandall, Stephen D Cederbaum

Mol Genet Metab· December 2010

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