@article{271d43f4f60c4a108bc0bb0dc0b1feb9,
title = "A novel mutation in PCCB gene causing neonatal onset propionic acidaemia in a Sri Lankan patient",
keywords = "Propionic acidaemia, hyperammonaemia, ketotic hyperglycinaemia, neonatal encephalopathy",
author = "Egodawaththe, {Niranjalee Samanthika} and Sandya Bandara and Eresha Jasinge and Patricia Jones",
note = "Funding Information: We thank the Metabolic Disease Laboratory, Texas, United States of America for performing the GCMS and the Rare Disease Company, CENTOGENE AG, Germany for carrying out the genetic testing for our patient.",
year = "2021",
doi = "10.4038/sljch.v50i1.9418",
language = "English (US)",
volume = "50",
pages = "153--155",
journal = "Sri Lanka Journal of Child Health",
issn = "1391-5452",
publisher = "Sri Lanka College of Paediatricians",
number = "1",
}