Two siblings with Gaucher type 3c: different clinical presentations
Articles > Article · 2019
Authors: Miray KARAKOYUN, Ebru CANDA, Ezgi Kiran Tasci, Eser DOĞAN, Mahmut ÇOKER, Sema AYDOĞDU
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Journal Indexed in SCI Expanded, International, 2019, vol 32, pp 533-536
Summary
Background: Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid beta-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most-frequent mutation.