Two siblings with Gaucher type 3c: different clinical presentations
Makaleler > Tam Makale · 2019
Yazarlar: Miray KARAKOYUN, Ebru CANDA, Ezgi Kiran Tasci, Eser DOĞAN, Mahmut ÇOKER, Sema AYDOĞDU
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2019, cilt 32, ss 533-536
Özet
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.