Dwight D. Koeberl
Duke University(US)Clinical Research Institute(US)Southern California Clinical and Translational Science Institute(US)Duke Medical Center(US)Pediatrics and Genetics(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, Biochemical and Molecular Research
Most-Cited Works
- → Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics(2014)486 cited
- → Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants(2009)375 cited
- → Persistent expression of human clotting factor IX from mouse liver after intravenous injection of adeno-associated virus vectors(1997)245 cited
- → The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005(2006)244 cited
- → Evasion of Immune Responses to Introduced Human Acid α-Glucosidase by Liver-Restricted Expression in Glycogen Storage Disease Type II(2005)165 cited
- Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.(1990)