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Uta Lichter Konecki, MD

The Center for Neuroscience and Behavioral Medicine

Departments
Genetics and Metabolism


Children’s Research Institute (CRI)
Center for Translational Science
Center for Neuroscience Research
View CRI Profile for Uta Lichter Konecki


Board CertificationsAmerican Brd of Med Genetics/Clin Biochemical Gen
American Board of Med. Genetics/Clinical Genetics
Foreign LanguagesGerman
National Provider Identifier1871671198
E-Mail

Service LocationsChildren's National Medical Center - Sheikh Zayed Campus for Advanced Children's Medicine
111 Michigan Avenue, NW
Washington, DC 20010
Map | Driving Directions

Phone: 202-476-5000
Biography

Dr. Lichter has extensive training in biochemical genetics and specialized in inborn errors of metabolism. She has fostered the program at Children's National and cares for many of the region's most complex patients. Dr. Lichter has extensive expertise in disorders of intermediary metabolism, including the urea cycle diseases.
Education
TypeSchoolLocationDegreeField of StudyYears
Medical School University of Heidelberg Tiffin, OHDoctor of Medicine 1977 -1984
National & International Recognitions
AwardInstitutionEventYear

Affiliations and Memberships
TitleInstitutionCommittee / SectionYears
MemberNational Human Genome Research Institute2003
MemberMedical Biochemical Genetics Fellowship2007
MemberGerman Society for Pediatric and Adolescent Medici
MemberSociety for Human Genetics
MemberAmerican Society of Human Genetics
Research
TitleStudy NameInstitutionYears
InvestigatorMolecular Mechanisms Of Complex AminoaciduriasNational Health and Medical Research Council 2008
InvestigatorAAV gene transfer into mouse models of urea cycle 2007
Read more about the research interests of Uta Lichter Konecki
Publications
Other, Lichter-Konecki, U., Mangin, J.M., Gordish-Dressman, H., Hoffman, E.P., Gallo, V. (2008), In Vivo, Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis.

Journal Article, Deardorff, M.A., Gaddipati, H., Kaplan, P., Sanchez-Lara, P.A,, Sondheimer, N., Spinner, N.B., Hakonarson, H., Ficicioglu, C., Ganesh, J., Markello, T., Loechelt, B., Zand, D.J., Yudkoff, M., Lichter- (2008), Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases, Journal of Molecular Genetics & Metabolism.

Journal Article, Wong, L.J., Dimmock, D., Geraghty, M.T., Quan, R., Lichter-Konecki, U., Wang, J., Brundage, E.K., Scaglia, F., Chinault, A.C. (2008), Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions, Journal of Clinical Chemistry.

Journal Article, Isackson, P.J., Bennett, M.J., Lichter-Konecki, U., Willis, M., Nyhan, W.L., Sutton, V.R., Tein, I., Vladutiu, G.D. (2008), CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency, Journal of Molecular Genetics & Metabolism.

Journal Article, Tuchman, M., Lee, B., Lichter-Konecki, U., Summar, M.L., Yudkoff, M., Cederbaum, S.D., Kerr, D.S., Diaz, G.A., Seashore, M.R., Lee, H.S., McCarter, R.J., Krischer, J.P., Batshaw, M.L., et al. (2008), Cross-sectional multicenter study of patients with urea cycle disorders in the United States, Journal of Molecular Genetics & Metabolism.

Book Chapter, Tuchman, M., Lichter-Konecki, U., Batshaw, M. (2008), Urea Cycle Disorders, In Tuchman, M., Lichter-Konecki, U., Batshaw, M., Rudolph's Pediatrics.

Journal Article, Lichter-Konecki, U. (2008), Profiling of Astrocyte Properties in the Hyperammonemic Brain: Shedding New Light on the Pathophysiology of the Brain Damage in Hyperammonemia, Journal of Inherited Metabolic Disease.

Journal Article, Lichter-Konecki, U., Hoffman, E., Gallo, V. (2007), Expression profiling of astrocytes from hyperammonemic mice reveals downregulation of genes important for water and potassium homeostasis, Journal of Inherited Metabolic Disease, 30, 1, 81-82.

Journal Article, Lichter-Konecki, U. & the members of the UCD-Consortium (2007), A new prospective multicenter study of treatment and outcome in urea cycle disorders (UCDs), Journal of Inherited Metabolic Disease, 90, 256.

Journal Article, Lichter-Konecki, U. & Isaacs, J. (2007), Treating a Patient with Severe Early-Onset, Non-Dysmorphic, Journal of Inherited Metabolic Disease, 90, 256.


For a more comprehensive list of publications for Uta Lichter Konecki, MD view the National Library of Medicine’s PubMed online database
 


   
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