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Recent advances in the diagnosis and management of Gaucher disease

INTRODUCTION: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase, is associated with wide phenotypic diversity including non-neuronopathic, acute neuronopathic, and chronic neuronopathic forms. Overlap between types can render definitive diagnoses difficul...

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Bibliographic Details
Published in:Expert Rev Endocrinol Metab
Main Authors: Gary, Sam E., Ryan, Emory, Steward, Alta M., Sidransky, Ellen
Format: Artigo
Language:Inglês
Published: 2018
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6129380/
https://ncbi.nlm.nih.gov/pubmed/30058864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/17446651.2018.1445524
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