Atypical case of neonatal-onset Gaucher disease type 3b: A case report

Atypical case of neonatal-onset Gaucher disease type 3b: A case report

Neonatal-onset Gaucher disease (nGD) is considered perinatal lethal GD, a variant of GD type 2 (GD2), and is associated with collodion skin or hydrops fetalis, hepatosplenomegaly, and involvement of central nervous system (CNS). Pulmonary involvement (PI) and lymphadenopathy (LD) are reported GD com...

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Bibliographic Details
Main Authors: Takanori Onuki, Kinuko Kojima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Go Hasegawa, Aya Narita, Hiromi Nyuzuki
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Gaucher disease
Gaucher disease type 3b
Gaucher disease type 1
Collodion skin
Neonatal onset
Pulmonary involvement
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000266
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