Uta Lichter-Konecki MD
Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics, Pediatric Medical Genetics
Associate Professor, Pediatrics, Columbia University, New York, NY
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1 Childrens Hospital Dr# 4401Pittsburgh, PA 15224
Phone+1 412-692-5070
Fax+1 412-692-6472
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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
DC State Medical License 2003 - 2026
MD State Medical License 2003 - 2026
PA State Medical License 2015 - 2026
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
- Phenylketonuria in adults: we know plenty, but there is much more to learn.Cary O Harding, Georgianne Arnold, Gerard T Berry, Shawn E Christ, Dorothy K Grange
The American Journal of Clinical Nutrition. 2025-03-01 - Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.Alina Ivaniuk, Irina A Anselm, Aaron Bowen, Bruce H Cohen, Fatma Tuba Eminoglu
Neurology. 2025-02-25 - 1 citationsInitial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) defic...Shawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, Gerard T Berry, Dorothy K Grange
Molecular Genetics and Metabolism. 2024-07-22
Press Mentions
Phenylketonuria over Time: What We’re Learning from a Natural History StudyJune 28th, 2024
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
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