Phenylketonuria Scientific Review Conference: state of the science and future research needs.

@article{Camp2014PhenylketonuriaSR,
  title={Phenylketonuria Scientific Review Conference: state of the science and future research needs.},
  author={Kathryn M. Camp and Melissa A. Parisi and Phyllis Jean Brown Acosta and Gerard Thomas Berry and Deborah A. Bilder and Nenad Blau and Olaf A. Bodamer and Jeffrey P Brosco and Christine S. H. Brown and Alberto Benedetto Burlina and Barbara K. Burton and Christine Susan Chang and Paul Moore Coates and Amy C Cunningham and Steven F. Dobrowolski and John Howard Ferguson and Thomas D. Franklin and Dianne M. Frazier and Dorothy Katherine Grange and Carol Greene and Stephen C. Groft and Cary O. Harding and Rodney R. Howell and Kathleen L Huntington and Henrietta D Hyatt-Knorr and Indira P Jevaji and Harvey L. Levy and Uta Lichter-Konecki and Mary Lou Lindegren and Michele Lloyd-puryear and Kimberlee Matalon and Anita Macdonald and Melissa L Mcpheeters and John Joseph Mitchell and S. H. Hedaiat Mofidi and Kathryn D Moseley and Christine mezzo-soprano M{\"u}ller and Andrew E. Mulberg and Lata S. Nerurkar and Beth N. Ogata and Anne R. Pariser and Suyash Prasad and Gabriella Pridjian and Sonja A Rasmussen and Uma M. Reddy and Frances J. Rohr and Rani H. Singh and Sandra M Sirrs and Stephanie E Stremer and Danilo A. Tagle and Susan Margaret. Thompson and Tiina K. Urv and Jeanine R Jarnes Utz and Francjan J van Spronsen and Jerry Vockley and Susan E Waisbren and Linda S. Weglicki and Desir{\'e}e A. White and Chester B. Whitley and Benjamin S Wilfond and Steven Yannicelli and Justin M. Young},
  journal={Molecular genetics and metabolism},
  year={2014},
  volume={112 2},
  pages={
          87-122
        }
}
New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members… CONTINUE READING
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