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MARC YUDKOFF, M.D.
M.D.
NPI: 1679589469Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD017296E(PA)
Clinical Biochemical Genetics Physician
Medical Genetics — Clinical Biochemical Genetics
Code: 207SG0202X
MD017296E(PA)
Pediatrics Physician
Pediatrics
Code: 208000000X
MD017296E(PA)
Developmental - Behavioral Pediatrics Physician
Pediatrics — Developmental - Behavioral Pediatrics
Code: 2080P0006X
MD017296E(PA)
Research & Publications (20)
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
PMID 18524659·Mol Genet Metab·2008
5-case
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
PMID 18562231·Mol Genet Metab·2008
4-observational
The ketogenic diet and brain metabolism of amino acids: relationship to the anticonvulsant effect.
PMID 17444813·Annu Rev Nutr·2007
6-review
Brain amino acid requirements and toxicity: the example of leucine.
PMID 15930465·J Nutr·2005
6-review
Ketogenic diet, brain glutamate metabolism and seizure control.
PMID 14769486·Prostaglandins Leukot Essent Fatty Acids·2004
6-review
Metabolism of brain amino acids following pentylenetetrazole treatment.
PMID 12576176·Epilepsy Res·2003
7-preclinical
Ketogenic diet, amino acid metabolism, and seizure control.
PMID 11746421·J Neurosci Res·2001
6-review
Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.
PMID 19660971·Mol Genet Metab·2009
3-trial
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
PMID 18437205·PLoS Genet·2008
7-preclinical
Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shunt.
PMID 18445600·J Biol Chem·2008
7-preclinical
N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.
PMID 18414145·Pediatr Res·2008
3-trial
Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.
PMID 18178500·Mol Genet Metab·2008
7-preclinical
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.
PMID 18262815·Mol Genet Metab·2008
5-case
3-isobutylmethylxanthine inhibits hepatic urea synthesis: protection by agmatine.
PMID 18375388·J Biol Chem·2008
7-preclinical
Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addiction.
PMID 19033189·Proc Natl Acad Sci U S A·2008
7-preclinical
Beyond aerobic glycolysis: transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis.
PMID 18032601·Proc Natl Acad Sci U S A·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
- 3401 CIVIC CENTER BLVD, CHILDREN'S HOSPITAL OF PHILADELPHIA - METABOLISM
PHILADELPHIA, PA 19104 - Phone
- (215) 590-3376
Quick Facts
- NPI
- 1679589469
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 4
- Locations
- 1
- Publications
- 20
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