PubMed · 13960505
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D GERMAIN. [Sphingolipidoses].. https://pubmed.ncbi.nlm.nih.gov/13960505/
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Gaucher disease is a lysosomal storage disease, which is characterized by genetic deficiency of glucocerebrosidase. As a result, the glucocerebroside is accumulated in macrophage lineage cells. Depends of presence of neurological symptoms, onset of disease and severity of disease, the disease is divided into three phenotypes. More than 180 mutations were reported and phenotype/genotype relations was somehow elucidated.