N Gupta I M Oppenheim E F Kauvar N Tayebi E Sidransky
10.1016/j.bcmd.2010.08.012
Blood Cells Mol Dis
2011 Jan 15;46(1):75-84.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/20880730/
Gaucher Disease / genetics Gaucher Disease / pathology Genetic Variation Glucosylceramidase / genetics Phenotype
Gaucher Disease / genetics Gaucher Disease / pathology Genetic Variation Glucosylceramidase / genetics Phenotype Case Reports Research Support, N.I.H., Intramural Review Female Gaucher Disease / physiopathology Gaucher Disease / therapy Genotype Humans Infant Infant, Newborn Male Glucosylceramidase
PMC3018671
20880730
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity
2011