Ontology highlight
ABSTRACT:
SUBMITTER: Singh RH
PROVIDER: S-EPMC3918542 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Singh Rani H RH Rohr Fran F Frazier Dianne D Cunningham Amy A Mofidi Shideh S Ogata Beth B Splett Patricia L PL Moseley Kathryn K Huntington Kathleen K Acosta Phyllis B PB Vockley Jerry J Van Calcar Sandra C SC
Genetics in medicine : official journal of the American College of Medical Genetics 20140102 2
The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term. Improvements and refinements in the diet for phenylalanine hydroxylase deficiency have been made over the years, and adjunctive therapies have proven to be successful for certa ...[more]