- Disorder of cornification 11 (phytanic acid type)
- Hereditary sensory and motor neuropathy type 4
- HMSN 4
- Heredopathia atactica polyneuritiformis
- Doc 11 (phytanic acid type)
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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.
Frontiers in Ichthyosis Research, Wednesday, June 23, 2010 - Friday, June 25, 2010
Location: Regal Sun Resort in Lake Buena Vista, Orlando, Florida
Description: The goals of this conference were to (1) provide an opportunity for investigators to become inspired by ichthyosis patients, thereby helping them focus on facilitating diagnosis, improving understanding of long- and short-term medical and social issues, and developing new therapeutic approaches to treatment and (2) identify new ways in which the investigators, patients, and patient support groups can achieve ongoing synergistic interactions.
Research Challenges in CNS Manifestations of Inborn Errors of Metabolism Workshop, Monday, December 07, 2009 - Wednesday, December 09, 2009
Location: Bethesda North Marriott, Bethesda, Maryland
Description: Jointly sponsored by the National Institute of Health's Office Rare Diseases Research, the National Institute of Neurological Disorders and Stroke, and the Food and Drug Administration's Center for Drug Evaluation and Research, Division of Gastroenterology Products, the goal of this workshop is to bring together those involved in research and investigational treatments for central nervous system aspects of inborn errors of metabolism, and to discuss ways to translate these therapies to clinical trials and beyond.