- Phenylalanine hydroxylase deficiency
- Oligophrenia phenylpyruvica
- Folling disease
- PAH deficiency
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ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
NPKUA’s 2014 National Conference: Making PKU History, Thursday, July 10, 2014 - Sunday, July 13, 2014
Location: Hilton Salt Lake City Center, Salt Lake City, UT
Description: Anticipated goals and use of results:. 1) To present and evaluate the latest medical advances and treatment options in PKU, including the NIH and ARHQ recent efforts in evaluating PKU gaps in treatment. 2) To offer a scientific platform for discussion between PKU researchers from around the national and the world, to share findings and interact during the Scientific Exchange. 3) To education clinical practitioners as well as affected individuals and their families. 4) To further opportunities for junior investigators and researchers to interact and develop their talents and to recruit young, creative individuals to the field of inherited metabolic diseases, especially PKU. 5) To create an atmosphere of support and networking between families and individuals with PKU across the nation and around the world. Acting on the results of evaluations, the Scientific Advisory Board will plan future meetings and share the result son the NPKUA website
Phenylketonuria Scientific Review Conference: State of the Science and Future Research Needs , Wednesday, February 22, 2012 - Thursday, February 23, 2012
Location: NIH Natcher Conference Center, Bethesda, MD
Description: Together, the PKU Scientific Conference and the Evidence-based Practice Center report will provide evidence on important issues, recommend future research, and provide guidance to patients, their families, and health care professionals.
Newborn Screening in the Genomic Era: Setting a Research Agenda, Monday, December 13, 2010 - Tuesday, December 14, 2010
Location: Rockville, MD
Description: This meeting allowed leaders in the fields of genomics and newborn screening to learn from each other and together explore new ways to advance research on new genomic technologies, potential health applications for newborn screening and beyond, and related ELSI issues.