title: Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.
abstract: Gaucher disease caused by hereditary deficiency of beta-glucocerebrosidase is the most prevalent lysosomal storage disease. The incidence of the 5 commonest mutations was estimated in the Polish Gaucher disease population. A trial to establish genotype/phenotype correlations was performed. A relatively high frequency of type III disease can be stated in the studied Polish Gaucher patients. The most frequent mutation was L444P, followed by the N370S mutation. A distinct correlation between genotype and phenotype was observed in the studied group of Polish patients with Gaucher disease.
authors.affiliation: Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: G
authors.initials: G
authors.lastname: Millat
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: B
authors.initials: B
authors.lastname: Czartoryska
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005776:Gaucher Disease / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005819:Genetic Markers; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011044:Poland / Q000453:epidemiology
chemical_list: D005819:Genetic Markers