The Urea Cycle Disorders Consortium
Participating Clinical Centers  

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Children's Hospital Boston

Children's Hospital Boston
Harvard Medical School
Boston, MA

Children's Hospital Boston

Children's Hospital Boston
One Autumn Street, Rm 526
Boston, MA 02115

Contact Information:

Susan Waisbren, PhD
Associate Professor of Psychology
Department of Psychiatry, Harvard Medical School
Psychologist
Metabolic Service, Children’s Hospital, Boston
E-mail: Susan.waisbren@childrens.harvard.edu

Phone: (617) 355-4686
Fax: (617) 730-0907

Harvey L. Levy, M.D.
Co-Investigator
E-mail: Harvey.Levy@childrens.harvard.edu

Phone: (617) 355-7346
Fax: (617) 730-0907

Vera Anastasoaie
Study Coordinator
Metabolism Research
E-mail: Vera.Anastasoaie@childrens.harvard.edu

Phone: (617) 355-7346

 

Current Studies:

5101: Longitudinal Study of Urea Cycle Disorders

 

List of Publications:

 

Harvey L. Levy, M.D.

Sunshine P, Lindebaum JE, Levy HL, Freeman JM. Hyperammonemia due to defect in hepatic ornithine transcarbamylase. Pediatrics 1972; 50:100-11.

Shih VE, Jones TC, Levy HL, Madigan PM. Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and in liver. Pediatr Res 1972; 6:548-51.

Rohr FJ, Levy HL, Shih VE. Inborn errors of metabolism. In: Walker WA, Watkins JB, editors. Nutrition in pediatrics- Basic science and clinical applications. Boston: Little, Brown, 1985; 391-422.

Levy H, Irons M. Hereditary metabolic diseases. In: Avery ME, First LR, editors. Pediatric medicine. Baltimore: Williams and Wilkins, 1989; 907-982.

Levy HL. Inborn errors of metabolism. In: Taeusch HW, Ballard RA, Avery ME, editors. Schaffer and Avery's Diseases of the newborn. 6th Ed. Philadelphia: WB Saunders, 1991; 120-46.

Prasad C, Dalton L, Levy H. Role of diet therapy in management of hereditary metabolic diseases. Nutr Res 1998; 18:391-402.

Fearing MK, Levy HL. Expanded newborn screening using tandem mass spectrometry. In: Advances in Pediatrics, 2003: 50:81-111.

Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, DeGirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr 2003; 142:349-52.

Cataltepe SU, Levy HL. Inborn errors of metabolism. In: Cloherty JP, Stark AR, Eichenwald EC, editors. Manual of neonatal care. Philadelphia: Lippincott and Williams, 2004; 591-606.

Sahai I, Levy HL. Advances in newborn screening for biochemical genetic disorders. In: Jorde LB, Little P, Dunn M, Subramaniam S, editors. Encyclopedia of genetics, genomics, proteomics and bioformatics. Vol. 1. Clinical genetics. London: Wiley, 2005.

James PM, Levy HL. The clinical aspects of newborn screening: importance of newborn screening follow-up. MRDD Research Reviews, 2006; 12:589

Susan Waisbren, PhD

Albers S, Waisbren SE, Ampola MG, Brewster TG, Burke LW, Demmer LA, Filiano J, Greenstein RM, Ingham CL, Korson MS, Marsden D, Schwartz RC, Seashore MR, Shih VE, Levy HL. New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry. J Inherit Metab Dis, 2001; 24:303-4.

Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Peuschel S, Seashore M, Shih VE, Levy Hl, New England Consortium of Metabolic Programs. Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis, 2002; 25:599-600.

Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA, 2003;290:2564-72.

Waisbren SE, Levy HL. Expanded screening of newborns for genetic disorders. JAMA, 2004; 291:820-1.

Waisbren SE, Rones M, Read CY, Marsden D, Levy HL. Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol, 2004; 29:565-70.

Gennaccaro M, Waisbren SE, Marsden D. The knowledge gap in expanded newborn screening survey results from pediatricians in Massachusetts. J Inherit Metab Dis 2005; 28:819-24.

Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical genetic disorders: the effect of a false-positive result. Pediatrics, 2006;117:1915-21.

Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis, 2006; 29:677-82.

Waisbren SE. Newborn screening for metabolic disorders. JAMA, 2006;296:993-5.

Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician, 2008;77:987-94.