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...

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Detalles Bibliográficos
Autores principales: Vujosevic, Snezana, Medenica, Sanja, Vujicic, Vesko, Dapcevic, Milena, Bakic, Nikola, Yang, Ruhua, Liu, Jun, Mistry, Pramod K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Case Report
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

Internet

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

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