Director, Medical Genetics Clinic; Metabolic Clinic; Professor, Pediatrics; Chief Emeritus, Pediatric Genetics; Professor, Human Genetics, UCLA School of Medicine
Medical Genetics
Dr. Stephen D. Cederbaum, MD
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Stephen Cederbaum is an expert in the field of Medical Genetics. He graduated from NYU School of Medicine. Stephen Cederbaum is a published doctor and has 42 publications published. The lastest was: 'Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.'
Publications
- Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.
- Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
- Myocyte-Mediated Arginase Expression Controls Hyperargininemia but not Hyperammonemia in Arginase-Deficient Mice.
- Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency.
- Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
- Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
- Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.
- Newborn screening 50 years later: access issues faced by adults with PKU.
- AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse.
- Is Melatonin Synthesis a New Biomarker for the Pathogenesis and Treatment of Phenylketonuria?
- Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
- Peanut consumption increases levels of plasma very long chain fatty acids in humans.
- Long-term Survival of the Juvenile Lethal Arginase-deficient Mouse With AAV Gene Therapy.
- Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
- Diabetes-induced vascular dysfunction involves arginase I.
- Combined Hurler and Sanfilippo syndrome in a sibling pair.
- 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 ...
- Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
- Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.
- Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector.
- Disruption of arginase II alters prostate tumor formation in TRAMP mice.
- Maternal glutaric acidemia, type I identified by newborn screening.
- Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.
- Contrasting features of urea cycle disorders in human patients and knockout mouse models.
- Polyamine homeostasis in arginase knockout mice.
- Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphic.
- Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
- Ornithine deficiency in the arginase double knockout mouse.
- Loss of arginase I results in increased proliferation of neural stem cells.
- New frontiers in hereditary metabolic disease: an historical perspective.
- Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.
- Hyperargininemia due to liver arginase deficiency.
- Arginases I and II: do their functions overlap?
- Widespread expression of arginase I in mouse tissues. Biochemical and physiological implications.
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
- Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
- Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
- Mouse model for human arginase deficiency.
- Expression of the liver form of arginase in erythrocytes.
- Helicobacter pylori induces macrophage apoptosis by activation of arginase II.
- Cloning and characterization of human agmatinase.
Schools
New York University
Barnes Jewish Hospital
University of Washington
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Blue Card PPO
- CaliforniaCare HMO
- Advantage Preferred DirectAccess Plus PPO
- Blue Cross Blue Shield of California PPO
- Pathway X Direct Access PPO
- Pathway X Tiered Direct Access
- Select Plus HMO
- Select PPO
- Cigna HMO
- Cigna PPO
- Open Access Plus
- Blue & Gold HMO
- Covered California - Bronze PPO
- Employer Group HMO
- Health Net PPO
- Individual and Family PPO
- Humana
- Medicare MCR
- Molina Healthcare
- Kaiser PHCS Network PPO
- MultiPlan PPO
- PHCS Network PPO
- Heritage Signature
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- PacifiCare HMO
Education
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Washington University - Barnes-Jewish Hospital -
NYU School of Medicine
Hospital
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Mattel Children's Hospital UCLA -
Ronald Reagan UCLA Medical Center -
Santa Monica-UCLA Medical Center and Orthopaedic Hospital
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