Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9.
Mol Genet Metab. 2021.
PMID: 33483255
Free PMC article.
Review.
The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continuum of disease severity with an overlap in manifestations and limited genotype-phenotype correlation. ...In this work, we present both classic an …
The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continuum o …