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

Article, Other literature type English OPEN
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.; Burton, Barbara K.; Chang, Christine S.; Coates, Paul M.; Cunningham, Amy C.; Dobrowolski, Steven F.; Ferguson, John H.; Franklin, Thomas D.; Frazier, Dianne M.; Grange, Dorothy K.; Greene, Carol L.; Groft, Stephen C.; Harding, Cary O.; Howell, R. Rodney; Huntington, Kathleen L.; Hyatt-Knorr, Henrietta D.; Jevaji, Indira P.; Levy, Harvey L.; Lichter-Konecki, Uta; Lindegren, Mary Lou; Lloyd-Puryear, Michele A.; ... view all 62 authors
(2014)
  • Publisher: Zenodo
  • Identifiers: doi: 10.5281/zenodo.1259488, doi: 10.5281/zenodo.1259489
  • Subject: CONTINUOUSLY TREATED PHENYLKETONURIA | MATERNAL BLOOD PHENYLALANINE | ENZYME REPLACEMENT THERAPY | Glycomacropeptide | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Large neutral amino acids | Maternal PIN | THERAPEUTIC LIVER REPOPULATION | Hyperphenylalaninemia | TANDEM MASS-SPECTROMETRY | NEUTRAL AMINO-ACIDS | DIHYDROPTERIDINE REDUCTASE DEFICIENCY | TETRAHYDROBIOPTERIN LOADING TEST | GENOTYPE-PHENOTYPE CORRELATIONS | Phenylketonuria | Sapropterin
    mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalities | nutritional and metabolic diseases

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... View more
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