UtaLichter-KoneckiMD
Medical Genetics • Pittsburgh, PAClinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics, Pediatric Medical Genetics
Associate Professor, Pediatrics, Columbia University, New York, NY
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Office
4401 Penn Avenue
Pittsburgh, PA 15224Phone+1 412-692-5070Fax+1 202-476-2390- Is this information wrong?
Education & Training
National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 2000 - 2003
Ruprecht Karl University Faculty of MedicineClass of 1984- National Institutes of Health Clinical CenterFellowship, Medical Biochemical Genetics
Certifications & Licensure
PA State Medical License 2015 - 2024
DC State Medical License 2003 - 2024
MD State Medical License 2003 - 2024
NY State Medical License 2014 - 2016
CT State Medical License 2001 - 2003- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Top Doctors:Washington DC Area Castle Connolly, 2012
Clinical Trials
- Longitudinal Study of Urea Cycle Disorders Start of enrollment: 2006 Feb 01
- Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders Start of enrollment: 2012 Feb 01
- Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Start of enrollment: 2007 Aug 01
Publications & Presentations
PubMed
- Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.Swetha Sriram, Nabiha Shahid, Diana Mysliwiec D, Uta Lichter-Konecki, Svetlana A Yatsenko, Luigi R Garibaldi> ;Journal of Pediatric Endocrinology & Metabolism. 2024 Apr 25
- 1 citationsHealth-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.Chaya N Murali, John R Barber, Robert McCarter, Anqing Zhang, Natalie Gallant, Kara Simpson, Naghmeh Dorrani, Greta N Wilkening, Ron D Hays, Uta Lichter-Konecki, , Lin...> ;Molecular Genetics and Metabolism. 2023 Nov 1
- 1 citationsRelationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.Uta Lichter-Konecki, Jacqueline H Sanz, , Robert McCarter> ;Pediatric Research. 2023 Dec 1
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Grant Support
- Wirb - A Phase 2, Fixed-Sequence, Open-Label, Switch-Over Study Of TheNational Center For Research Resources2010
- Longitudinal Study Of Urea Cycle DisordersNational Center For Research Resources2007–2010
Hospital Affiliations
UPMC Children's Hospital of PittsburghPittsburgh, Pennsylvania
UPMC Presbyterian ShadysidePittsburgh, Pennsylvania
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