Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines - Hans Andersson MD

Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines

Presenter Hans Andersson MD 2014 SERC-SERGG Annual Conference University of Florida Health Pediatric Specialties Tallahassee, FL Date July 17th, 2014 Length 11:01 Download Slides Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines About the Presentation Presenter Biography Hans C. Andersson, MD is the Karen Gore Chair of Human Genetics and Director of the Hayward Genetics Center at the Tulane University Medical School where he directs the Biochemical Genetics Lab. Dr. Andersson is the past President of the SouthEast Regional Genetics Group (SERGG), holds membership of numerous national societies including the Society of Pediatric Research and is a member of the Editorial Board of the Journal of Pediatrics. He is past Co-Chair of the National Coordinating Center Telegenetics Workgroup and a current CO-PI of the Southeast Regional Genetics Network (SERN). Selected Publications by the Presenter Selected Publications by the Presenter (from a total of 50 publications) Andersson HC, Kratz L, Kelley R^.Desmosterolosis Presenting with Multiple Congenital Anomalies and Profound Developmental Delay. Am J Med Genet 113:315-319, 2002. Andersson HC, MA Krousel-Wood, KE Jackson, J Rice, IM Lubin.Medical Genetic Test Reporting in Molecular Cystic Fibrosis and Factor V Leiden Tests Based On Reports Solicited From North American Laboratories. Gen in Med 4(5):324-7 2002. Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores G, Prakesh-Cheng A, Rosenbloom BE, Scott R, Wappner RS, Weinreb NJ. Individualization of Long-term Enzyme Replacement Therapy for Gaucher Disease. Genet in Med Feb 7:105-110, 2005. Andersson HC, Narumanchi TC, Cunningham A, Bowdish B, Thoene J. Genetic/Metabolic Health Care Delivery During and After Katrina and Rita, Molecular Genetics and Metabolism, 88:3-6, 2006. Andersson HC, Kaplan P, Kacena K, J Yee. Eight-year clinical outcomes of long-term enzyme replacement therapy in 884 children with type 1 Gaucher disease, Pediatrics 2008; 122;1182-1190. Andersson HC, Kaplan P, Kacena K, J Yee. Eight-year clinical outcomes of long-term enzyme replacement therapy in 884 children with type 1 Gaucher disease, Pediatr,122:1182, 2008 Andersson, Perry W, Bowdish B, P Floyd-Browning. Emergency preparedness for genetics centers, laboratories and patients: the SouthEast Region Genetics Collaborative strategic plan. Genet Med, ePub: June, 2011, October, 2011.