Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Disease Mechanism, Genetic Disorder, Genetics +6

Principles of Good Practice for the Translation and Cultural Adaptation Process for Patient-Reported Outcomes (PRO) Measures: Report of the ISPOR Task Force for Translation and Cultural Adaptation

D Wild, Alyson Grove, Mona Martin et al. · Value in Health · 2005 · 5.1K citations · Full text

Nursing, Family Medicine, Primary Care +15

Leiter International Performance Scale

George McCloskey · Digital Commons - PCOM (Philadelphia College of Osteopathic Medicine) · 1987 · 579 citations

Productivity, Performance Studies, Measurement +6

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

Joseph Muenzer, J. E. Wraith, Michael Beck et al. · Genetics in Medicine · 2006 · 578 citations · Full text

Allergy, Enzyme Replacement Therapy, Inherited Metabolic Disease +6

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

J. E. Wraith, L. Clarke, Michael Beck et al. · The Journal of Pediatrics · 2004 · 540 citations

Enzyme Replacement Therapy, Recombinant Human α-L-iduronidase, Pathology +4