Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

• Main Authors: Chew, H.B., Ngu, L.H., Zabedah, M.Y., Keng, W.T., Balasubramaniam, S., Hanifah, M.J.M., Kobayashi, K.
• Format: Article
• Published: Kluwer (now part of Springer) 2010
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/11879/

Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Mal...