Phenylketonuria Scientific Review Conference: state of the science and future research needs
KM Camp, MA Parisi, PB Acosta, GT Berry…�- Molecular genetics and�…, 2014 - Elsevier
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 met over a 1-year period�…
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 met over a 1-year period�…