Concepedia

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

George J. G. Ruijter, M. J. Valstar, Jiddeke M. van de Kamp, R.M. van der Helm, Stéphanie Durand, O. P. van Diggelen, Ron A. Wevers, B. J. H. M. Poorthuis, Alexey V. Pshezhetsky, Frits A. Wijburg

Molecular Genetics and Metabolism · 2007 · 150 citations · 21 references

DOI

Concepts

References

21

Measurement of protein using bicinchoninic acid

Pam Smith, Randall I. Krohn, Greg T. Hermanson et al. · Analytical Biochemistry · 1985 · 18.4K citations

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The metabolic and molecular bases of inherited disease

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

, , +14

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

, , +9

Prevalence of lysosomal storage diseases in Portugal

Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos et al. · European Journal of Human Genetics · 2003 · 349 citations

, , +11

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

J. J. P. van de Kamp, M. F. Niermeijer, Kurt Von Figura et al. · Clinical Genetics · 1981 · 218 citations

, , +16