Guillem Pintos-Morell

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

G. Pintos-Morell, R. Cancho-Candela, M. Martí-Herrero, 2010, European journal of medical genetics.

Fabry disease and the skin: data from FOS, the Fabry outcome survey

R. Jaussaud, U. Ramaswami, G. Pintos-Morell, 2007, The British journal of dermatology.

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

U. Ramaswami, G. Pintos-Morell, R. Parini, 2007, Acta paediatrica.

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

R. Schiffmann, P. Elliott, J. Moon, 2021, Molecular genetics and metabolism.

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

J. Torregrosa, B. Soler-López, E. Casado, 2023, Orphanet Journal of Rare Diseases.