Louisa Kalsner, MD

Associate Professor of Pediatrics, University of Connecticut School of Medicine

• Kalsner, L, Amplification of region on 14q including PSEN1 in a child with mental retardation and epilepsy. Abstract accepted for poster presentation at American College of Medical Genetics meeting, March 2010.
• Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, Bei T, Bjornson B, Russell L, Chanoine JP, Tsagarakis S, Kalsner L, Stratakis C; Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-20005. Clinc Genet. 2005; 68(3):215-21.
• Kalsner L, Rohr R, Strauss K, Korson M, Levy H; Tyrosine supplementation in Pheylketonuria: Effects on the blood tyrosine level and presumed brain influx. Journal of Pediatrics 2001; 139:421-427.
• Perez-Atayde AR, Fox V, Teitelbaum JE, Anthony DA, Fadic R, Kalsner L, Rivkin M, Johns DR, Cox GF; Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. American Journal of Surgical Pathology 1998; 22 (9): 1141-1147.