bibliographicCitation |
Ohura T, Kobayashi K, Abukawa D, Tazawa Y, Aikawa J, Sakamoto O, Saheki T, Iinuma K. A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. European Journal of Pediatrics. 2003 Feb 27;162(5):317–22. doi: 10.1007/s00431-003-1171-5. |