Prevalence of lysosomal storage diseases in Portugal

Author:

Pinto Rui,Caseiro Carla,Lemos Manuela,Lopes Lurdes,Fontes Augusta,Ribeiro Helena,Pinto Eugénia,Silva Elisabete,Rocha Sónia,Marcão Ana,Ribeiro Isaura,Lacerda Lúcia,Ribeiro Gil,Amaral Olga,Sá Miranda M C

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Scriver SR, Beaudet AL, Sly WS, Valle D (eds): The metabolic bases of inherited disease. New-York: McGraw-Hill, 2001, Vol. 3.

2. Poorthuis BJ, Wevers RA, Kleijer WJ et al: The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105: 151–156.

3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF : Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249–254.

4. Wenger D, Williams C : Screening for lysosomal disorders; in Hommes FA (ed): Techniques in diagnostic human biochemical genetics. New York: Wiley-Liss, 1991, pp 587–617.

5. Galjaard H : Genetic metabolic diseases. Early diagnosis and prenatal analysis. Amsterdam: Elsevier/North Holland, 1980.

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