UtaLichter-KoneckiMD

Medical Genetics • Pittsburgh, PA

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics, Pediatric Medical Genetics

Associate Professor, Pediatrics, Columbia University, New York, NY

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Office
1 Childrens Hospital Dr
# 4401
Pittsburgh, PA 15224
Phone+1 412-692-5070

Fax+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
Recruiting
Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders Start of enrollment: 2012 Feb 01
Terminated
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Start of enrollment: 2007 Aug 01
Completed
Phase 2

Publications & Presentations

PubMed

Initial 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
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
Journal of Pediatric Endocrinology & Metabolism. 2024-04-25
3 citations
Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.
Uta Lichter-Konecki, Jacqueline H Sanz, , Robert McCarter
Pediatric Research. 2023-12-01

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