|
Volumn 46, Issue 1, 2011, Pages 39-41
|
A monozygotic twin pair with highly discordant Gaucher phenotypes
|
Author keywords
Gaucher disease; Glucocerebrosidase; Monozygotic twins; Seizures
|
Indexed keywords
CHITOTRIOSIDASE;
DNA;
GLUCOSYLCERAMIDASE;
IMIGLUCERASE;
ADULT;
ARTICLE;
BONE MARROW BIOPSY;
CASE REPORT;
CEREBELLUM DISEASE;
CLINICAL FEATURE;
CONSANGUINITY;
DNA DETERMINATION;
ENZYME ACTIVITY;
ENZYME REPLACEMENT;
EPILEPSY;
FEMALE;
GAUCHER DISEASE;
GENE MUTATION;
HOMOZYGOSITY;
HUMAN;
INSULIN DEPENDENT DIABETES MELLITUS;
MONOZYGOTIC TWINS;
MOROCCO;
PARENT;
PHENOTYPE;
PRIORITY JOURNAL;
ADOLESCENT;
ADULT;
CEREBELLAR DISEASES;
DIABETES MELLITUS, TYPE 1;
DISEASES IN TWINS;
FEMALE;
GAUCHER DISEASE;
GENOTYPE;
GLUCOSYLCERAMIDASE;
HUMANS;
MOROCCO;
MUTATION;
PHENOTYPE;
TWINS, MONOZYGOTIC;
YOUNG ADULT;
|
EID: 78650809398
PISSN: 10799796
EISSN: None
Source Type: Journal
DOI: 10.1016/j.bcmd.2010.10.007 Document Type: Article |
Times cited : (55)
|
References (9)
|