publication venue for
- Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy. 2021
- Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.. 42. 2019
- Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.. 38. 2015
- High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.. 33. 2010
- Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. 2012