TY  - JOUR
AU  - Torralba, M A
AU  - Olivera, S
AU  - Bureo, J C
AU  - Dalmau, J
AU  - Nuñez, R
AU  - León, P
AU  - Villarrubia, J
PY  - 2016
DO  - 10.1093/qjmed/hcw002
UR  - http://hdl.handle.net/10668/9757
T2  - QJM : monthly journal of the Association of Physicians
AB  - Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype...
LA  - en
KW  - Adolescent
KW  - Adult
KW  - Alleles
KW  - Bone Density
KW  - Bone Diseases
KW  - Child
KW  - Child, Preschool
KW  - DNA Copy Number Variations
KW  - Female
KW  - Gaucher Disease
KW  - Gene Duplication
KW  - Genetic Testing
KW  - Glucosylceramidase
KW  - Humans
KW  - Infant
KW  - Lumbar Vertebrae
KW  - Male
KW  - Middle Aged
KW  - Organ Size
KW  - Sequence Deletion
KW  - Severity of Illness Index
KW  - Spain
KW  - Spleen
KW  - Young Adult
TI  - Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
TY  - research article
VL  - 109
ER  -