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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Detalles Bibliográficos
Autores principales: Wei, Meili, Han, Aiqin, Wei, Liping, Ma, Liji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6538945/
https://www.ncbi.nlm.nih.gov/pubmed/31192173
http://dx.doi.org/10.3389/fped.2019.00201

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6538945/
https://www.ncbi.nlm.nih.gov/pubmed/31192173
http://dx.doi.org/10.3389/fped.2019.00201

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