Alagille Syndrome Publications

Physicians and researchers from The Children's Hospital of Philadelphia have studied and written numerous articles and book chapters about Alagille syndrome. Our team has expanded the world’s understanding about the causes of this disorder and continue to develop new therapies to address the conditions most serious effects.

Below is a list of publications by CHOP physicians, researchers and staff. Each offered detailed medical information about Alagille syndrome and many are available online.

General Alagille articles

Cardiac disease


Growth and nutrition

Liver disease and transplantation

  • Witzleben CL, Finegold M, Piccoli DA, Treem WR. Bile canalicular morphometry in arteriohepatic dysplasia. Hepatology. 1987; 7:1262-1266.

Skeletal defects


  • Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA. Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;41(1):99-107.
  • Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004; 109 (11):1354-8.

Textbook chapters

  • Kamath BM, Loomes KM, Piccoli DA. JAGGED1NOTCH2 sequence in Alagille syndrome. In: Murray K, Larson AM, editors. Fibrocystic disease of the liver. 1st ed. New York: Springer-Verlag; 2010.
  • Kamath BM, Piccoli DA. Alagille syndrome. In: Liacouras CA, Piccoli DA, editors. Pediatric gastroenterology: the requisites. Philadelphia: Saunders/Churchill/Mosby; 2008. p. 227-232.
  • Kamath BM, Piccoli DA. Alagille Syndrome. In: Encyclopedia of Pediatric Gastroenterology. Elsevier; 2004. p. 20-24.
  • Kamath BM, Krantz ID. Alagille Syndrome. In: Cassidy and Allanson, editor. Management of Genetic Syndromes, 2nd edition.. Wiley-Liss, 2005, p. 31-40.
  • Piccoli DA. Alagille Syndrome. In: Suchy F, editor. Liver Disease in Children, 2nd ed. Philadelphia: W.B. Saunders; 2001. p. 327-342.
  • Piccoli DA, Witzleben CL. Disorders of Intrahepatic Bile Ducts. In: Walker , Goulet, Kleinman, Sherman, Shneider, Sanderson editors. Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management. 4th ed. Hamilton, Ontario: BC Decker Inc.;2004.
  • Rand EB. Alagille syndrome. In Altschuler SM, Liacouras CA., editors. Pediatric Gastroenterology. London: Churchill, Livingstone, Inc.; 1997.