Dr. Lichter-Konecki is on Doximity
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Office
1 Childrens Hospital Dr
# 4401
Pittsburgh, PA 15224Phone+1 412-692-5070Fax+1 412-692-6472
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
- MD State Medical License 2003 - 2026
- DC State Medical License 2003 - 2024
- PA State Medical License 2015 - 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
- 38 citationsUnique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si
Human Mutation. 2018-11-01 - 32 citationsPhenylketonuria: Current Treatments and Future Developments.Uta Lichter-Konecki, Jerry Vockley
Drugs. 2019-04-01 - 50 citationsAmmonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate.Uta Lichter-Konecki, George A. Diaz, J.L. Merritt, Annette Feigenbaum, C. Jomphe
Molecular Genetics and Metabolism. 2011-08-01
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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