publication venue for
- GYG1: A distal myopathy with polyglucosan bodies.. 55. 2020
- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.. 45. 2018
- Erratum.. 33. 2017
- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.. 33. 2016
- Galactokinase deficiency in a patient with congenital hyperinsulinism.. 5. 2011