Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Stuart J. Swiedler, Michael Beck, M Bajbouj et al. · American Journal of Medical Genetics Part A · 2005 · 162 citations

Medicine, Neurology, Molecular Pathology +12

Mutational analysis of 105 mucopolysaccharidosis type VI patients

Litsa Karageorgos, Doug A. Brooks, A.C. Pollard et al. · Human Mutation · 2007 · 138 citations

Life Sciences, Genetics, Molecular Genetics +16

Rare diseases research in Europe: an overview based on data from the Orphanet database

Natalia Martín, Nicolas Doulet, Virginie Hivert et al. · Orphanet Journal of Rare Diseases · 2010 · 117 citations · Full text

Veterinary Medicine, Clinical Sciences, Oncology +15

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

A. C. M. Azevedo, IV Schwartz, Luciane Kalakun et al. · Clinical Genetics · 2004 · 116 citations

Medicine, Pathology, Clinical Biochemistry +12

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

Vlasta Fesslová, Paola Corti, Giovanna Sersale et al. · Cardiology in the Young · 2009 · 116 citations

Medicine, Cardiology, Pathology +16