Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

Abstract Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β‐glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical presentations can be diverse, a recognized clinical tra...

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Bibliographic Details
Main Authors: John S. Wang, Rebecca L. Koch, Daniel Kenney‐Jung, Erin Huggins, Sirajbir S. Sodhi, Andrew P. Landstrom, Dilraj S. Grewal, Priya S. Kishnani
Format: Article
Language:English
Published: Wiley 2024-09-01
Series:JIMD Reports
Subjects:
beta‐glucocerebrosidase
enzyme replacement therapy
Gaucher disease type 3c
GBA
neuropathy
uveitis
Online Access:https://doi.org/10.1002/jmd2.12440
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