Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes
Emily Daykin, Emory Ryan, Ellen Sidransky
Topics & Concepts
PhenotypeDiseaseMendelian inheritanceGlucocerebrosidaseMedicineSubstrate reduction therapyEnzyme replacement therapyGeneticsGeneBiologyPathologyLysosomal Storage Disorders ResearchCellular transport and secretionTrypanosoma species research and implications