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Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report.

著者 Vujosevic S , Medenica S , Vujicic V , Dapcevic M , Bakic N , Yang R , Liu J , Mistry PK
World J Clin Cases.2019 Jun 26 ; 7(12):1475-1482.
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The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical phenotypes of GD in order to correlate them with gene mutations, as well as to identify gene mutation in patients in Montenegro that are diagnosed with GD.
PMID: 31363476 [PubMed]
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