Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Author:

Singh Rani H.,Rohr Fran,Frazier Dianne,Cunningham Amy,Mofidi Shideh,Ogata Beth,Splett Patricia L.,Moseley Kathryn,Huntington Kathleen,Acosta Phyllis B.,Vockley Jerry,Van Calcar Sandra C.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference75 articles.

1. Agency for Healthcare Research and Quality. Comparative Effectiveness of Treatment for Phenylketonuria (PKU). Comparative Effectiveness Review No. 56. (Prepared by the Vanderbilt Evidence-Based Practice Center under Contract No. 290-2007-10065-I.) AHRQ Publication No. 12-EHC035-EF. 2011; http://www.effectivehealthcare.ahrq.gov/reports/final.cfm.

2. National Institutes of Health. National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics 2001;108:972–982.

3. Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child 1993;68:426–427.

4. Vockley J, Andersson H, Antshel KM, et al. Phenylalanine hydroxylase deficiency diagnosis and management guideline. Genet Med, e-pub ahead of print 2 January 2014.

5. GMDI Delphi Survey: Genetic Metabolic Dietitians International and Southeast Regional Newborn Screening and Genetics Collaborative; 2013.

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