publication venue for
- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. 2018
- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. 2016
- GYG1: A distal myopathy with polyglucosan bodies.. 55. 2020
- Galactokinase deficiency in a patient with congenital hyperinsulinism.. 5. 2011