Concepedia

Prevalence of lysosomal storage diseases in Portugal

Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos, Lurdes Lopes, Augusta Fontes, Helena Ribeiro, Eugénia Pinto, Elisabete Silva, Sónia Rocha, Ana Marcão,

European Journal of Human Genetics · 2003 · 349 citations · 13 references

DOI

Concepts

References

13

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

, , +13

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

Techniques in diagnostic human biochemical genetics: A laboratory manual

R.C. Strange · FEBS Letters · 1992 · 413 citations · Full text

, , +8

Techniques in diagnostic human biochemical genetics

Emmanuel Shapira · Europe PMC (PubMed Central) · 1991 · 351 citations

, , +7

Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease

Vuk Koprivica, Deborah L. Stone, Joseph K. Park et al. · The American Journal of Human Genetics · 2000 · 334 citations · Full text

, , +16