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

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