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MENDEL TUCHMAN, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1861570103Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD31596(DC)
Research & Publications (20)
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
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
PMID 18562231·Mol Genet Metab·2008
4-observational
Hyperammonemia: are the burdens too grave? Case study.
PMID 15835081·Ethics Intellect Disabil·2004
8-other
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
PMID 11793468·Hum Mutat·2002
6-review
The molecular basis of ornithine transcarbamylase deficiency.
PMID 11216899·Eur J Pediatr·2000
8-other
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
PMID 18666241·Hum Mutat·2009
8-other
Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.
PMID 19660971·Mol Genet Metab·2009
3-trial
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
PMID 19540516·J Pediatr·2009
5-case
Mechanism of allosteric inhibition of N-acetyl-L-glutamate synthase by L-arginine.
PMID 19095660·J Biol Chem·2009
4-observational
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).
PMID 19089418·Pediatr Radiol·2009
6-review
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
PMID 18397837·Mol Genet Metab·2008
8-other
Oral zolmitriptan in the short-term prevention of menstrual migraine: a randomized, placebo-controlled study.
PMID 18788838·CNS Drugs·2008
3-trial
Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods.
PMID 18801197·BMC Biochem·2008
7-preclinical
Monodermatomal herpes zoster in a pseudodisseminated distribution following breast reconstruction surgery.
PMID 18306852·Cutis·2008
5-case
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
PMID 19669271·Hepatol Int·2008
8-other
The crystal structure of N-acetyl-L-glutamate synthase from Neisseria gonorrhoeae provides insights into mechanisms of catalysis and regulation.
PMID 18184660·J Biol Chem·2008
8-other
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
PMID 17421020·Hum Mutat·2007
8-other
A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase.
PMID 17425781·BMC Biochem·2007
7-preclinical
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
PMID 17565723·Hum Mutat·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
- 111 MICHIGAN AVE NW
WASHINGTON, DC 20010 - Phone
- (202) 884-2187
Quick Facts
- NPI
- 1861570103
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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