Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient

The metabolic and molecular bases of inherited disease

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

Life Sciences, Genetics, Molecular Genetics +14

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

Peter J. Wilson, C. Phillip Morris, D S Anson et al. · Proceedings of the National Academy of Sciences · 1990 · 275 citations

Life Sciences, Genetics, Molecular Biology +17

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

Ya. V. Voznyi, J. L. M. Keulemans, O. P. van Diggelen · Journal of Inherited Metabolic Disease · 2001 · 194 citations

Life Sciences, Molecular Medicine, Pathology +16

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Roseline Froissart, Irène Maire, Gilles Millat et al. · Clinical Genetics · 1998 · 65 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

Koji Isogai, Kazuko Sukegawa, Shunji Tomatsu et al. · Journal of Inherited Metabolic Disease · 1998 · 49 citations

Life Sciences, Genetics, Molecular Genetics +12