@misc{misca3659d31, title = {Asparagine synthetase deficiency detected by whole exome sequencing: the first description in two Brazilians siblings}, author = {Grangeiro, Carlos Henrique Paiva and Huber, Jair and Martelli, LĂșcia Regina}, year = {2017}, doi = {10.1177/2326409817722292}, booktitle = {International Congress on Inborn Errors of Metabolism (ICIEM)} }