Dihydropteridine reductase deficiency
- DHPR deficiency
- Hyperphenylalaninemia, BH-4-deficient, C
- Hyperphenylalaninemia due to dihydropteridine reductase deficiency
- Phenylketonuria type 2
- Quinoid dihydropteridine reductase 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.
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.