M Biegstraaten I N van Schaik J M F G Aerts M Langeveld M M A M Mannens L J Bour E Sidransky N Tayebi E Fitzgibbon C E M Hollak
10.1016/j.bcmd.2010.10.007
Blood Cells Mol Dis
2011 Jan 15;46(1):39-41.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/21056933/
Cerebellar Diseases / etiology Diabetes Mellitus, Type 1 / complications Diseases in Twins Gaucher Disease / complications Gaucher Disease / diagnosis Gaucher Disease / genetics Gaucher Disease / pathology Phenotype Twins, Monozygotic / genetics
Cerebellar Diseases / etiology Diabetes Mellitus, Type 1 / complications Diseases in Twins Gaucher Disease / complications Gaucher Disease / diagnosis Gaucher Disease / genetics Gaucher Disease / pathology Phenotype Twins, Monozygotic / genetics Case Reports Adolescent Adult Female Genotype Glucosylceramidase / blood Humans Morocco Mutation Young Adult Glucosylceramidase
PMC3352676
21056933
A monozygotic twin pair with highly discordant Gaucher phenotypes
2011