@article{18aaaca988d9422ba208a5c94f56923c,
title = "The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation",
author = "N Aula and P Salom{\"a}ki and R Timonen and Frans Verheijen and \{Verheijen - Mancini\}, Grazia and JE Mansson and P Aula and L Peltonen",
year = "2000",
language = "Undefined/Unknown",
volume = "67",
pages = "832--840",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
}