@article{5836f6e2aa2f4e6699a09278a17608eb,
title = "Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene",
author = "Jan Huijmans and Rachel Schot and Hans Klerk and Monique Williams and IFM Coo and M Duran and Frans Verheijen and \{van Slegtenhorst\}, Marjon and \{Verheijen - Mancini\}, Grazia",
year = "2017",
doi = "10.1002/ajmg.a.38240",
language = "Undefined/Unknown",
volume = "173",
pages = "1601--1606",
journal = "American Journal of Medical Genetics Part A",
issn = "1552-4825",
publisher = "John Wiley \& Sons Inc.",
number = "6",
}