Gaucher disease: complexity in a “simple” disorder

Author:

Sidransky Ellen

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference76 articles.

1. Monogenic traits are not simple: lessons from phenylketonuria;Scriver;Trends Genet.,1999

2. Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics;Dipple;Am. J. Hum. Genet.,2000

3. Gaucher disease;Beutler,2001

4. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene;Sidransky;Pediatr. Res.,1992

5. Gaucher’s disease: unexpected diagnosis in three patients over seventy years old;Berrebi;Nouv. Rev. Fr. Hematol.,1984

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