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Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.

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Title: Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.
Authors: Richbourg H; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Rangel Miller V; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Khazaie Japalaghi O; Ultragenyx Pharmaceutical Inc., Novato, California, USA., AlSayed M; College of Medicine, Al-Faisal University, Riyadh, Riyadh Province, Saudi Arabia, alfaisal.edu., Baker PR; Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA, colorado.edu., Daugherty S; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Ekstein T; Labcorp, San Francisco, California, USA., Grünert SC; Children's Hospital, Department of Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Freiburg University Hospital, Freiburg, Baden-Württemberg, Germany., Kiel MJ; Genomenon, Ann Arbor, Michigan, USA., Khan A; M.A.G.I.C. (Metabolics and Genetics in Canada) Clinic Ltd., Calgary, Alberta, Canada., Kobayashi H; Laboratories Division, Shimane University Hospital, Izumo, Shimane Prefecture, Japan, shimane-u.ac.jp., Korngut L; Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada, ucalgary.ca., Monteleone SA; Genomenon, Ann Arbor, Michigan, USA., Schwartz IVD; Hospital de Clinicas, Porto Alegre, Rio Grande do Sul, Brazil., Miller N; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Vockley J; Division of Medical Genetics and Center for Rare Disease Therapy, University of Pittsburgh, Pittsburgh, Pennsylvania, USA, pitt.edu.
Source: Human mutation [Hum Mutat] 2026 Jul 07; Vol. 2026, pp. 6864813. Date of Electronic Publication: 2026 Jul 07 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1098-1004
DOI:10.1155/humu/6864813