| |
|
|
| |
|
|
| |
Uta Lichter-Konecki, MD
|
|
 |
Center of Excellence, Departments, and Programs
The Center for Neuroscience and Behavioral Medicine
Genetics and Metabolism
Children’s Research Institute (CRI)
Center for Clinical and Community Research
Center for Neuroscience Research
View CRI Profile for Uta Lichter-Konecki
|
|
| Board Certifications |
American Board of Medical Genetics
|
| Foreign Languages |
German |
National Provider Identifier
 |
1871671198 |
|
| Practice Locations |
Children's National Medical Center - Main Hospital
111 Michigan Avenue, NW
Washington, DC
Phone: 202-476-5000
 
|
|
| Biography |
| inborn errors of metabolism |
|
| Education |
| Type | School | Location | Degree | Field of Study | Years | | Medical School | University of Heidelberg | | Doctor of Medicine | | 1977 -1984 |
|
|
| Training |
| Type | Institution | Location | Position | Specialty | Years | | Internship Program | University of Heidelberg | Heidelberg, Germany | Intern | | | | Fellowship Program | National Institutes of Health | Bethesda, MD | Fellow | | 2000 - 2003 |
|
|
| National and International Recognition |
| Award | Institution | Event | Year | | | | | | | | | | | | | | | | | | | | | |
| | | | | | | | |
|
|
| Affiliations and Memberships |
| Title | Institution | Committee / Section | Years | | Member | National Human Genome Research Institute | | 2003 | | Member | Medical Biochemical Genetics Fellowship | | 2007 | | Member | German Society for Pediatric and Adolescent Medici | | | | Member | Society for Human Genetics | | | | Member | American Society of Human Genetics | | |
|
|
| Research |
|
|
| 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 |
|
|
|
|
|
|
