Back to Search
STEPHEN CEDERBAUM, M.D.
M.D.
NPI: 1932121217Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
G20126(CA)
Research & Publications (20)
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
PMID 18562231·Mol Genet Metab·2008
4-observational
New frontiers in hereditary metabolic disease: an historical perspective.
PMID 16403665·Mol Genet Metab·2006
7-preclinical
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
PMID 12409266·Mol Genet Metab·2002
5-case
Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector.
PMID 19367256·Mol Ther·2009
7-preclinical
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
PMID 19157942·Mol Genet Metab·2009
6-review
Bone marrow cell derived arginase I is the major source of allergen-induced lung arginase but is not required for airway hyperresponsiveness, remodeling and lung inflammatory responses in mice.
PMID 19486531·BMC Immunol·2009
7-preclinical
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
PMID 19138872·Mol Genet Metab·2009
8-other
Maternal glutaric acidemia, type I identified by newborn screening.
PMID 18304851·Mol Genet Metab·2008
5-case
Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review.
PMID 18332257·Arch Neurol·2008
5-case
Disruption of arginase II alters prostate tumor formation in TRAMP mice.
PMID 18663728·Prostate·2008
7-preclinical
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
PMID 18155630·Mol Genet Metab·2008
6-review
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.
PMID 17997338·Mol Genet Metab·2008
7-preclinical
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
PMID 18925679·Am J Med Genet A·2008
5-case
Contrasting features of urea cycle disorders in human patients and knockout mouse models.
PMID 17933574·Mol Genet Metab·2008
6-review
Polyamine homeostasis in arginase knockout mice.
PMID 17686999·Am J Physiol Cell Physiol·2007
7-preclinical
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
PMID 17846916·J Inherit Metab Dis·2007
3-trial
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.
PMID 18036498·Mol Genet Metab·2007
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 10833 LE CONTE AVE, 12-441 MDCC
LOS ANGELES, CA 90095 - Phone
- (310) 206-3952
Quick Facts
- NPI
- 1932121217
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
Are you this provider?
Claim Your Profile