Concepedia

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Gregory M. Pastores, Pamela Arn, Michael Beck, Joe T.R. Clarke, Nathalie Guffon, Paige Kaplan, Joseph Muenzer, Denise Norato, Elsa Shapiro, Janet A. Thomas,

Molecular Genetics and Metabolism · 2007 · 206 citations · 17 references

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References

17

The metabolic and molecular bases of inherited disease

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

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The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 725 citations

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Enzyme-Replacement Therapy in Mucopolysaccharidosis I

Emil Kakkis, Joseph Muenzer, George E. Tiller et al. · New England Journal of Medicine · 2001 · 675 citations · Full text

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The Gaucher Registry

Joel Charrow, Hans C. Andersson, Paige Kaplan et al. · Archives of Internal Medicine · 2000 · 585 citations

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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 · 546 citations

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