Concepedia

Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants

Wen Zhang, Ting Xie, Huiying Sheng, Yongxian Shao, Yunting Lin, Minyan Jiang, Aijing Xu, Xueying Su, Zongcai Liu, Xiaoyuan Zhao,

Clinica Chimica Acta · 2019 · 23 citations · 23 references

DOI

Concepts

References

23

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

, , +16

Initial report from the Hunter Outcome Survey

J. E. Wraith, Michael Beck, Roberto Giugliani et al. · Genetics in Medicine · 2008 · 190 citations

, , +15

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

Maire-Louise Bondeson, Niklas Dahl, Helena Malmgren et al. · Human Molecular Genetics · 1995 · 177 citations

, , +12

Measuring Urinary Glycosaminoglycans in the Presence of Protein: An Improved Screening Procedure for Mucopolysaccharidoses Based on Dimethylmethylene Blue

J G de Jong, Ron A. Wevers, R Liebrand-van Sambeek · Clinical Chemistry · 1992 · 169 citations

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A clinical study of 77 patients with mucopolysaccharidosis type II

Ida Vanessa Döederlein Schwartz, Márcia Gonçalves Ribeiro, João Gustavo Fiani Bacila Mota et al. · Acta Paediatrica · 2007 · 134 citations

, , +12