1. Sturm E (2013) Familiäre Intrahepatische Cholestase. In: Rodeck B, Zimmer KP (Hrsg) Pädiatrische Gastroenterologie, Hepatologie und Ernährung. Springer, Berlin Heidelberg, S 430–441
2. Baris HN, Cohen IJ, Mistry PK (2014) Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 12(Suppl 1):72–81
3. Garrod AE (1996) The incidence of alkaptonuria: a study in chemical individuality. 1902. Mol Med 2:274–282
4. Sturm E, Verkade HJ Disorders of the Intraheptic Bile Duct. In: Kleinman RE, Sanderson IR, Goulet O, Sherman PM, Mieli-Vergani G, Shneider B (Hrsg) Pediatric Gastrointestinal Disease, 6. Aufl. People’s Medical Publishing House, Shelton (in press)
5. Jacquemin E, Malan V, Rio M, Davit-Spraul A, Cohen J, Landrieu P (2010) Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr 50:447–449