A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations

A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations

Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth. The typical clinical manifestations include non-immune hydrops fetalis (NIHF), premature birth, fetal growth restriction, fetal in...

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Bibliographic Details
Main Authors: Meili Wei, Aiqin Han, Liping Wei, Liji Ma
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Pediatrics
Subjects:
hepatosplenomegaly
thrombocytopenia
convulsions
premature neonate
ichthyosis
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00201/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00201/full

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