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Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes
Gaucher disease (GD), resulting from biallelic mutations in the gene GBA1, is a monogenic recessively inherited Mendelian disorder with a wide range of phenotypic presentations. The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continu...
Tallennettuna:
| Julkaisussa: | Mol Genet Metab |
|---|---|
| Päätekijät: | , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2021
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7884077/ https://ncbi.nlm.nih.gov/pubmed/33483255 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2021.01.002 |
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