Refsum disease, infantile form
- Infantile form of phytanic acid storage disease
- Infantile Refsum disease
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ORDR Co-Sponsored Conferences
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.
Nutritional Challenges in the High-Risk Infant, Monday, September 14, 2009 - Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.