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Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines - Hans Andersson MD
Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines  
2014 SERC-SERGG Annual Conference
Sawgrass Marriot
Ponte Vedra Beach, FL  
July 17th, 2014

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. Following fellowship training in clinical genetics and cell biology at the National Institutes of Health and University Gottingen, Germany, Dr. Andersson holds American Board of Medical Genetics certification in Clinical Genetics and Clinical Biochemical/Molecular Genetics. His research has elucidated clinical features and pathophysiology of inherited metabolic genetic disorders. 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 member of the Disaster Preparedness Workgroup. Dr. Andersson recently presented this work on SERC telegenetics in plenary session at the American Telemedicine Association meeting (Tampa, May, 2011).
Selected Publications by the Presenter
Selected Publications by the Presenter
(from a total of 50 publications)

Andersson HC, Kratz L, Kelley RDesmosterolosis 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.

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