Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea

  • Hepatology. 2020 May;71(5):1879-1882. doi: 10.1002/hep.31087.
Emily Gao  1 ,  Huma Cheema  2 ,  Nadia Waheed  2 ,  Iqra Mushtaq  2 ,  Nihan Erden  1 ,  Carol Nelson-Williams  3 ,  Dhanpat Jain  1  4 ,  Carol J Soroka  1 ,  James L Boyer  1 ,  Youssef Khalil  5 ,  Peter T Clayton  5 ,  Pramod K Mistry  1  6 ,  Richard P Lifton  3  7  8 ,  Sílvia Vilarinho  1  4
Affiliations
  • 1. Department of Internal Medicine, Section of Digestive Diseases, Yale University School of Medicine, New Haven, CT.
  • 2. Division of Pediatric Gastroenterology-Hepatology, The Children's Hospital & The Institute of Child Health, Lahore, Pakistan.
  • 3. Department of Genetics, Yale University School of Medicine, New Haven, CT.
  • 4. Department of Pathology, Yale University School of Medicine, New Haven, CT.
  • 5. Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
  • 6. Department of Pediatrics and of Molecular and Cellular Physiology, Yale University School of Medicine, New Haven, CT.
  • 7. Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT.
  • 8. Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY.
PMID: 31863603 DOI: 10.1002/hep.31087