P020: Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes
therapy towards human clinical trials.They also demonstrate the potential value of multiple therapeutic modalities in this disease.Recognition that cardiac fibrosis precedes functional deficits in MDKO animals suggests that this pathophysiology should be explored in patients as it indicates a potential benefit for antifibrosis therapy.
Authors
- Anzalee Khan (ORCID: https://orcid.org/0000-0002-8683-2320)
- Ida Vanessa Döederlein Schwartz (ORCID: https://orcid.org/0000-0002-7933-6687)
- Jerry E. Vockley (ORCID: https://orcid.org/0000-0002-8180-6457)
- Hironori Kobayashi (ORCID: https://orcid.org/0000-0001-9091-3521)
- Omid Japalaghi
- Lawrence Korngut (ORCID: https://orcid.org/0000-0003-1594-5923)
- Peter R. Baker (ORCID: https://orcid.org/0000-0001-7826-9251)
- Sarah C. Grünert (ORCID: https://orcid.org/0000-0001-5986-0468)
- Heather A. Richbourg (ORCID: https://orcid.org/0000-0002-4081-1073)
- Moeenaldeen AlSayed (ORCID: https://orcid.org/0000-0003-1995-8465)
- Tali Ekstein (ORCID: https://orcid.org/0000-0003-0391-5612)
- Nicole L. Miller (ORCID: https://orcid.org/0000-0003-3408-0574)
- Vanessa Rangel Miller
- Mark J. Kiel (ORCID: https://orcid.org/0000-0003-0931-1983)
- Stephanie Monteleone
- Sean C. Daugherty
Institutions
- Alfaisal University (SA)
- University of Calgary (CA)
- Shimane University (JP)
- University Medical Center Freiburg (DE)
- Hospital de Clínicas de Porto Alegre (BR)
- Ultragenyx Pharmaceutical (United States) (US)
- Children's Hospital of Pittsburgh (US)
- Second Genome (United States) (US)
- Shimane University Hospital (JP)
- University of Colorado Anschutz Medical Campus (US)
- KLA (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102864
- Primary Topic
- Biomedical Text Mining and Ontologies
- Type
- article
- Field-Weighted Citation Impact
- 0.00