Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta

Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta

Background. Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is chara...

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Bibliographic Details
Main Authors: Musa Öztürk, Ebru Aypar, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, İlker Ertuğrul, Murat Güvener, Ergün Barış Kaya
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2024-11-01
Series:The Turkish Journal of Pediatrics
Subjects:
Gaucher disease type IIIC
D409H mutation
porcelain aorta
transcatheter aortic valve implantation (TAVI)
Online Access:https://turkjpediatr.org/article/view/5206
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