title: Lipidoses detected in Poland through 1993.
abstract: It is estimated that 70-100 children suffering from a lysosomal storage disease are born in Poland every year. From 1975 to 1993, the activity of various lysosomal enzymes was determined in the leukocytes, cultured skin fibroblasts, or hair roots from 5,594 patients, mainly children, in whom the diagnosis of a lipidosis was suspected. In that material 162 cases of a lipidosis were diagnosed. Metachromatic leukodystrophy seems to be the most frequent of the lipidoses; GM1 gangliosidosis is more frequent than GM2 gangliosidosis and Gaucher and Niemann-Pick diseases appear to be almost as frequent as the former.
authors.affiliation: Department of Genetics, Child's Health Centre, Warsaw, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Czartoryska
authors.forename: A
authors.initials: A
authors.lastname: Tylki-Szymañska
authors.forename: D
authors.initials: D
authors.lastname: Górska
authors.forename: D
authors.initials: D
authors.lastname: Sawnor-Korszyñska
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007966:Leukodystrophy, Metachromatic / Q000145:classification / Q000453:epidemiology / Q000235:genetics; D008064:Lipidoses / Q000145:classification / Q000453:epidemiology* / Q000235:genetics; D016464:Lysosomal Storage Diseases / Q000145:classification / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D009542:Niemann-Pick Diseases / Q000145:classification / Q000453:epidemiology / Q000235:genetics; D011044:Poland / Q000453:epidemiology