Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance
Anasufiza Habib, Zabedah Md Yunus, Nor Azimah Azize, Gaik-Siew Ch'ng, Winnie PeiTee Ong, Bee-Chin Chen, Ho-Torng Hsu, Ke-Juin Wong, James Pitt, Lock-Hock Ngu
EUROPEAN JOURNAL OF PEDIATRICS | SPRINGER | Published : 2013
We thank the Director General of Health Malaysia for the permission to publish this paper. Our special thanks to Dr. Shahnaz Murad, Director of Institute for Medical Research Kuala Lumpur, and Dr. Rohani Md Yasin, Head of Specialised Diagnostic Centre, for the critical reading of the manuscript and valuable comments. We wish to acknowledge the expert technical assistance of Professor Johannes Haberle and Miss Dana Leiteritz from the Division of Metabolism, University Children's Hospital and University of Zurich, Switzerland in the molecular diagnosis of the proband. This case study was funded by a diagnostic fund from the Ministry of Health where most of the authors work (except the author from Australia).