S. Vijayaraghavan

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

C. Eng, M. Shinawi, U. Ramaswami, 2011, Genetics in Medicine.

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

C. Eng, M. Shinawi, U. Ramaswami, 2006, Genetics in Medicine.

Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473))

C. Eng, M. Shinawi, U. Ramaswami, 2006 .

The impact of screening for propionic and methylmalonic acidaemia

J. Leonard, J. Walter, S. Vijayaraghavan, 2003, European Journal of Pediatrics.

Long-term open-label phase I/II extension study of intrathecal idursulfase-IT in the treatment of neuronopathic mucopolysaccharidosis II.

J. Muenzer, Margot B. Stein, S. Kearney, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

C. Hendriksz, R. Giugliani, D. Whiteman, 2017, Molecular genetics and metabolism reports.

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

M. Mascelli, C. Hendriksz, Zheng Fan, 2015, Genetics in Medicine.

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Robert W. Taylor, T. Strom, M. Zeviani, 2013, Human mutation.

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

C. Lourenço, N. Mungan, C. O’Neill, 2019, Orphanet Journal of Rare Diseases.