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UTA LICHTER-KONECKI, MD

MD

Pediatrics Physician

NPI: 1871671198IndividualAccepts Medicare

Specialties, Licenses & Credentials

Clinical Genetics (M.D.) Physician

Medical Genetics — Clinical Genetics (M.D.)

Code: 207SG0201X

MD34366(DC)
Pediatrics PhysicianPrimary

Pediatrics

Code: 208000000X

MD455276(PA)

CMS Specialties

PrimaryPEDIATRIC MEDICINE

Education

OTHER

Class of 1984

Research & Publications (11)

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
PMID 18550408·Mol Genet Metab·2008
5-case
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
Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism.
PMID 19047233·Pediatrics·2008
4-observational
Profiling of astrocyte properties in the hyperammonaemic brain: shedding new light on the pathophysiology of the brain damage in hyperammonaemia.
PMID 18683079·J Inherit Metab Dis·2008
6-review
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
PMID 18562231·Mol Genet Metab·2008
4-observational
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
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.
PMID 18487280·Clin Chem·2008
5-case
Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo.
PMID 18186079·Glia·2008
7-preclinical
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.
PMID 15159646·J Inherit Metab Dis·2004
5-case
Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.
PMID 11090339·Am J Hum Genet·2001
8-other
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
PMID 10767174·Mol Genet Metab·2000
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
1 CHILDRENS HOSPITAL DR, 4401 PENN AVENUE
PITTSBURGH, PA 15224

Location

Practice Location

1 CHILDRENS HOSPITAL DR, PITTSBURGH, PA
(412) 692-5070

Quick Facts

NPI
1871671198
Entity Type
Individual
Gender
Female
Medicare
Accepted
Specialties
2
Locations
1
Years in Practice
42
Publications
11

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