publication . Article . Other literature type . 2014

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

Camp, Kathryn M.; Parisi, Melissa A.; Acosta, Phyllis B.; Berry, Gerard T.; Bilder, Deborah A.; Blau, Nenad; Bodamer, Olaf A.; Brosco, Jeffrey P.; Brown, Christine S.; Burlina, Alberto B.; ...
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Open Access
  • Published: 01 Jun 2014
Abstract
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. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; ...
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doi: 10.5281/zenodo.1259489 , 10.5281/zenodo.1259488
Subjects
Medical Subject Headings: congenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseases
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ZENODO
Article . 2014
Provider: ZENODO
Zenodo
Other literature type . 2014
Provider: Datacite
Zenodo
Other literature type . 2014
Provider: Datacite
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