title: Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.
authors.affiliation: Hematology Center Karolinska, M54, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden, maciej.machaczka@ki.se.
authors.forename: Maciej
authors.initials: M
authors.lastname: Machaczka
authors.forename: Monika
authors.initials: M
authors.lastname: Klimkowska
mesh_terms: D019943:Amino Acid Substitution; D002675:Child, Preschool; D003241:Consanguinity; D017124:Conserved Sequence; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics* / Q000627:therapeutic use; D006529:Hepatomegaly / Q000209:etiology; D006579:Heterozygote; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D007492:Iran / Q000208:ethnology; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D011994:Recombinant Proteins / Q000627:therapeutic use; D013156:Splenectomy; D013163:Splenomegaly / Q000209:etiology / Q000601:surgery; D055815:Young Adult
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase