
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
MD State Medical License 2003 - 2028
DC 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
Publications & Presentations
PubMed
- Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.Johan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, Jessica C Lee, Kaz M Knight
EMBO Molecular Medicine. 2026-09-08 - Bone mineral density in participants with phenylalanine hydroxylase (PAH) deficiency: a report from the PHEFREE rare disorders consortium.Georgianne L Arnold, Seiji Koike, Cary O Harding, Gerard T Berry, Shawn E Christ
Molecular Genetics and Metabolism. 2026-08-12 - From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.Oliver Heath, Francisco Del Caño-Ochoa, Safa Baris, Rosalba Carrozzo, David Coman
Molecular Genetics and Metabolism. 2026-04-01
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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