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Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
BACKGROUND: The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical ph...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656677/ https://www.ncbi.nlm.nih.gov/pubmed/31363476 http://dx.doi.org/10.12998/wjcc.v7.i12.1475 |