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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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2019-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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