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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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| Published in: | Expert Rev Endocrinol Metab |
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| Main Authors: | , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
2018
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| 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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