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- 2019
- Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia (
- 2018
- A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers : from bedside to home site monitoring (
- 2016
- Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency : A perinatal protocol for use before population neonatal screening test results become available (
- Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes (