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Biochemical abnormalities in Pearson syndrome |
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| Authors: | Beatrice Letizia Crippa Eyby Leon Amy Calhoun Amy Lowichik Marzia Pasquali Nicola Longo |
| Affiliation: | 1. Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah;2. University of Milano, Milan, Italy;3. Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota;4. Department of Pathology, University of Utah, Salt Lake City, Utah;5. Primary Children's Hospital, Salt Lake City, Utah;6. ARUP Laboratories, University of Utah, Salt Lake City, Utah |
| Abstract: | |
| Keywords: | Pearson syndrome mitochondrial disease organic aciduria orotic acid plasma amino acids uridine |