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Rare genotype associated with severe bone disease in Gaucher disease type 1.

著者 d'Avila Paskulin L , Starosta RT , Zizemer VS , Basgalupp S , Bertholdo D , Vairo FPE , Siebert M , Michelin-Tirelli K , Schwartz IVD
Mol Genet Metab Rep.2019 Dec ; 21():100544.
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Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia, thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenic variants in which codes for glucocerebrosidase, an enzyme involved in the catabolic pathway of complex lipids.
PMID: 31799121 [PubMed]
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