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Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment
Authors:Ahmad Alhariri  Katherine Hamilton  Vikash Oza  Kelly Cordoro  Nara L. Sobreira  Mary Malloy  Anne Slavotinek
Affiliation:1. Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California;2. Department of Pediatrics, Division of Medical Genetics, Children Hospital of Pittsburgh, Pittsburgh, Pennsylvania;3. Department of Neurology, UCSF, San Francisco, California;4. The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York City, New York;5. Department of Dermatology, UCSF, San Francisco, California;6. McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland;7. Departments of Medicine and Pediatrics, UCSF, San Francisco, California
Abstract:
Keywords:bile acid metabolism  cerebrotendinous xanthomatosis  CYP27A1  inborn error of metabolism  leukodystrophy
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