Stephen Cederbaum

University of California, Los Angeles — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index1.7kcitations58works0.02yr avg
OpenAlex↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Metabolism and Genetic Disorders(39), Mitochondrial Function and Pathology(13), Diet and metabolism studies(12), Amino Acid Enzymes and Metabolism(11), Genomics and Rare Diseases(8)

Publications58 total

Should the “mitochondrial cocktail” be a default option? An opinion
Molecular Genetics and Metabolism·2025
An obituary and tribute to Doug Kerr
Molecular Genetics and Metabolism·2025
THE PHARMACOKINETICS OF TASTE-MASKED SODIUM PHENYLBUTYRATE (ACER-001) FOR THE TREATMENT OF UREA CYCLE DISORDERS UNDER FASTING AND FED CONDITIONS IN HEALTHY VOLUNTEERS
Molecular Genetics and Metabolism·2022
TASTE-MASKED COATING OF SODIUM PHENYLBUTYRATE (ACER-001) IMPROVES THE PALATABILITY OF SODIUM PHENYLBUTYRATE FOR TREATMENT OF UREA CYCLE DISORDERS
Molecular Genetics and Metabolism·2022
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
Molecular Genetics and Metabolism·2021· 1 cited
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
UNC Libraries·2020Open Access
Biochemical markers and neuropsychological functioning in distal urea cycle disorders
Journal of Inherited Metabolic Disease·2018· 41 citedOpen Access
Introduction to Metabolic and Biochemical Genetic Diseases
Avery's Diseases of the Newborn·2018
Contributors
Avery's Diseases of the Newborn·2018
Disorders of amino acid, organic acid, and ammonia metabolism
2016
Interpreting sequence variants in a clinical context
Genetics in Medicine·2015· 4 citedOpen Access
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Genetics in Medicine·2015· 113 citedOpen Access
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
Molecular Genetics and Metabolism·2015· 16 citedOpen Access
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Genetics in Medicine·2014· 40 citedOpen Access
Table 1. [Summary of Molecular Genetic Testing Used in Arginase Deficiency].
2014
Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency
The Journal of Pediatrics·2014· 65 citedOpen Access
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
Molecular Genetics and Metabolism·2013· 22 citedOpen Access
Newborn screening 50 years later: access issues faced by adults with PKU
Genetics in Medicine·2013· 132 citedOpen Access
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
Hepatology·2012· 93 citedOpen Access
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders
Molecular Genetics and Metabolism·2012· 48 citedOpen Access
page 1 of 3Next →

Frequent Co-authors

Cary O. Harding(9), Annette Feigenbaum(9), Jerry Vockley(7), Renata C. Gallagher(7), Uta Lichter‐Konecki(7), Nicola Longo(6), Susan A. Berry(6), George A. Díaz(5), Shawn E. McCandless(5), James B. Gibson(5), Masoud Mokhtarani(4), William J. Rhead(4), James Bartley(4), William Berquist(4), Dennis Bartholomew(4), Wendy E. Smith(4), Mark Korson(4), David Kronn(4), Cynthia LeMons(4), Dion F. Coakley(4)