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Stephen D. Cederbaum

University of California, Los Angeles

188

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

2021 Molecular genetics and metabolism reports
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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

2019 Molecular genetics and metabolism reports
- Jeremy D. Woods
- Stephen D. Cederbaum
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Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers

2019 Molecular Genetics & Genomic Medicine
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Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

2019 Proceedings of the National Academy of Sciences of the United States of America
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Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.

2019 JCI insight
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Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

2018 Molecular Genetics and Metabolism
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Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice

2018 Molecular Genetics and Metabolism
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Biochemical markers and neuropsychological functioning in distal urea cycle disorders

2018 Journal of Inherited Metabolic Disease
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Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency

2017 Pediatric and Developmental Pathology
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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?

2017 Genetics in Medicine
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