publication venue for
- Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. 18:11-13. 2019
- Novel heterozygous mutations in the PGAM2 gene with negative exercise testing. 17:53-55. 2018
- Higher oxidative stress in skeletal muscle of McArdle disease patients. 12:69-75. 2017
- Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease. 6:13-15. 2016